owencqueen/cgbench_data huggingface dataset:
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0
Genes: MYH7
Version: 2.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: MYH7
Version: 1.0.0 (released 6/25/2017)
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0
Genes: PTEN
Version: 3.1.0 (released 3/14/2024)
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0
Genes: PTEN
Version: 3.0.0 (released 3/27/2023)
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Genes: PTEN
Version: 2.0.0 (released 9/10/2019)
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 1.0.0
Genes: PTEN
Version: 1.0.0 (released 8/17/2018)
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2
Genes: CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Version: 2.0.0 (released 3/30/2022)
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: TECTA, KCNQ4, SLC26A4, MYO7A, USH2A, MYO6, GJB2, COCH, CDH23
Version: 1.0.0 (released 8/15/2018)
ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0
Genes: PAH
Version: 2.0.0 (released 7/16/2024)
ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: PAH
Version: 1.0.0 (released 3/2/2018)
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
Genes: CDH1
Version: 3.1.0 (released 3/29/2022)
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3
Genes: CDH1
Version: 3.0.0 (released 9/21/2021)
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Genes: CDH1
Version: 2.0.0 (released 9/6/2019)
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH1 Version 1.0.0
Genes: CDH1
Version: 1.0.0 (released 9/19/2018)
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Genes: RUNX1
Version: 2.0.0 (released 9/15/2021)
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: RUNX1
Version: 1.0.0 (released 7/10/2019)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.3.0
Genes: TP53
Version: 2.3.0 (released 2/7/2025)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.2.0
Genes: TP53
Version: 2.2.0 (released 9/30/2024)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.1.0
Genes: TP53
Version: 2.1.0 (released 9/13/2024)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.0.0
Genes: TP53
Version: 2.0.0 (released 7/30/2024)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.4.0
Genes: TP53
Version: 1.4.0 (released 7/5/2023)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.3.0
Genes: TP53
Version: 1.3.0 (released 3/8/2023)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2
Genes: TP53
Version: 1.2.0 (released 8/6/2019)
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 1.0.0
Genes: TP53
Version: 1.0.0 (released 8/6/2019)
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Genes: GAA
Version: 2.0.0 (released 6/2/2021)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
Genes: ITGA2B, ITGB3
Version: 2.1.0 (released 11/1/2021)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.0
Genes: ITGA2B, ITGB3
Version: 2.0.0 (released 9/4/2020)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ITGA2B Version 1.0.0
Genes: ITGA2B, ITGB3
Version: 1.0.0 (released 6/12/2020)
ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
Genes: RYR1
Version: 2.0.0 (released 3/1/2022)
ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: RYR1
Version: 1.0.0 (released 11/9/2020)
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2
Genes: LDLR
Version: 1.2.0 (released 11/9/2021)
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA
Genes: SLC19A3, PDHA1, POLG, ETHE1
Version: 1.0.0 (released 4/30/2020)
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Version: 1.0.0 (released 4/30/2020)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0
Genes: HNF1A
Version: 2.1.0 (released 8/11/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.0.0
Genes: HNF1A
Version: 2.0.0 (released 1/11/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2
Genes: HNF1A
Version: 1.2.0 (released 6/5/2021)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
Genes: HNF1A
Version: 1.1.0 (released 6/5/2021)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 1.0.0
Genes: HNF1A
Version: 1.0.0 (released 6/4/2021)
ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0
Genes: AKT3, MTOR, PIK3CA, PIK3R2
Version: 1.1.0 (released 8/19/2022)
ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: AKT3, MTOR, PIK3CA, PIK3R2
Version: 1.0.0 (released 5/15/2021)
ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.0.0
Genes: MYOC
Version: 2.0.0 (released 12/12/2024)
ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
Genes: MYOC
Version: 1.1.0 (released 11/19/2021)
ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: MYOC
Version: 1.0.0 (released 10/12/2021)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0
Genes: ATM
Version: 1.3.0 (released 3/27/2024)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.2.0
Genes: ATM
Version: 1.2.0 (released 11/28/2023)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1
Genes: ATM
Version: 1.1.0 (released 2/25/2022)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1
Genes: ATM
Version: 1.0.0 (released 1/19/2022)
ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: ACADVL
Version: 1.0.0 (released 11/9/2021)
ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: FBN1
Version: 1.0.0 (released 1/5/2022)
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1
Genes: MYO15A, OTOF
Version: 1.0.0 (released 3/30/2022)
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0
Genes: DICER1
Version: 1.3.0 (released 1/30/2024)
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0
Genes: DICER1
Version: 1.2.0 (released 5/31/2023)
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.1.0
Genes: DICER1
Version: 1.1.0 (released 9/21/2022)
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1
Genes: DICER1
Version: 1.0.0 (released 5/5/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 2.0.0
Genes: GATM
Version: 2.0.0 (released 12/3/2024)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0
Genes: GATM
Version: 1.1.0 (released 9/14/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1
Genes: GATM
Version: 1.0.0 (released 3/21/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0
Genes: GAMT
Version: 2.0.0 (released 5/23/2024)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1.1.0
Genes: GAMT
Version: 1.1.0 (released 9/14/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 1
Genes: GAMT
Version: 1.0.0 (released 3/21/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.2.0
Genes: SLC6A8
Version: 1.2.0 (released 4/10/2025)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0
Genes: SLC6A8
Version: 1.1.0 (released 9/14/2022)
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1
Genes: SLC6A8
Version: 1.0.0 (released 3/21/2022)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 4.0.0
Genes: TCF4
Version: 4.0.0 (released 2/28/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0
Genes: TCF4
Version: 3.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Genes: CDKL5, FOXG1, MECP2, SLC9A6, TCF4, UBE3A
Version: 2.0.0 (released 12/31/2021)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: CDKL5, FOXG1, MECP2, SLC9A6, TCF4, UBE3A
Version: 1.0.0 (released 2/17/2021)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0
Genes: SLC9A6
Version: 3.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 4.1.0
Genes: CDKL5
Version: 4.1.0 (released 3/31/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 4.0.0
Genes: CDKL5
Version: 4.0.0 (released 2/26/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0
Genes: CDKL5
Version: 3.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 4.1.0
Genes: FOXG1
Version: 4.1.0 (released 3/31/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 4.0.0
Genes: FOXG1
Version: 4.0.0 (released 2/26/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0
Genes: FOXG1
Version: 3.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 4.1.0
Genes: MECP2
Version: 4.1.0 (released 3/31/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0
Genes: MECP2
Version: 3.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 5.0.0
Genes: UBE3A
Version: 5.0.0 (released 2/28/2025)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0
Genes: UBE3A
Version: 4.0.0 (released 5/9/2023)
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 3.0.0
Genes: UBE3A
Version: 3.0.0 (released 11/10/2022)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.3.0
Genes: SHOC2
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.2.0
Genes: SHOC2
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.1.0
Genes: SHOC2
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.0.0
Genes: SHOC2
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Genes: SHOC2, NRAS, RAF1, SOS1, SOS2, PTPN11, KRAS, MAP2K1, HRAS, RIT1, MAP2K2, BRAF
Version: 1.0.0 (released 7/18/2017)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.3.0
Genes: NRAS
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.2.0
Genes: NRAS
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.1.0
Genes: NRAS
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.0.0
Genes: NRAS
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.3.0
Genes: RAF1
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.2.0
Genes: RAF1
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.1.0
Genes: RAF1
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.0.0
Genes: RAF1
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.3.0
Genes: SOS1
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.2.0
Genes: SOS1
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0
Genes: SOS1
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.0.0
Genes: SOS1
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.3.0
Genes: SOS2
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.2.0
Genes: SOS2
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.1.0
Genes: SOS2
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.0.0
Genes: SOS2
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.3.0
Genes: PTPN11
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.2.0
Genes: PTPN11
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.1.0
Genes: PTPN11
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.0.0
Genes: PTPN11
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.3.0
Genes: KRAS
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.2.0
Genes: KRAS
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.1.0
Genes: KRAS
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.0.0
Genes: KRAS
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.3.0
Genes: MAP2K1
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.2.0
Genes: MAP2K1
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.1.0
Genes: MAP2K1
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.0.0
Genes: MAP2K1
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.3.0
Genes: HRAS
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.2.0
Genes: HRAS
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.1.0
Genes: HRAS
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.0.0
Genes: HRAS
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.3.0
Genes: RIT1
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.2.0
Genes: RIT1
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.1.0
Genes: RIT1
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.0.0
Genes: RIT1
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.3.0
Genes: MAP2K2
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.2.0
Genes: MAP2K2
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.1.0
Genes: MAP2K2
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.0.0
Genes: MAP2K2
Version: 2.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.3.0
Genes: BRAF
Version: 2.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.2.0
Genes: BRAF
Version: 2.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.1.0
Genes: BRAF
Version: 2.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.0.0
Genes: BRAF
Version: 2.0.0 (released 8/3/2024)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 2.0.0
Genes: SCN1A
Version: 2.0.0 (released 1/7/2025)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 1.0.0
Genes: SCN1A
Version: 1.0.0 (released 3/19/2024)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 2.0.0
Genes: SCN2A
Version: 2.0.0 (released 1/7/2025)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 1.0.0
Genes: SCN2A
Version: 1.0.0 (released 3/19/2024)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 2.0.0
Genes: SCN3A
Version: 2.0.0 (released 1/7/2025)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 1.0.0
Genes: SCN3A
Version: 1.0.0 (released 3/19/2024)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 2.0.0
Genes: SCN8A
Version: 2.0.0 (released 1/7/2025)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 1.0.0
Genes: SCN8A
Version: 1.0.0 (released 3/19/2024)
ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0
Genes: F8
Version: 1.0.0 (released 10/5/2023)
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 2.0.0
Genes: SCN1B
Version: 2.0.0 (released 1/7/2025)