owencqueen/cgbench_data huggingface dataset:
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYH7
Version: 2.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYH7
Version: 1.0.0
Released: 6/25/2017
ClinGen PTEN Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTEN
Version: 3.1.0
Released: 3/14/2024
ClinGen PTEN Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTEN
Version: 3.0.0
Released: 3/27/2023
ClinGen PTEN Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTEN
Version: 2.0.0
Released: 9/10/2019
ClinGen PTEN Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTEN
Version: 1.0.0
Released: 8/17/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH23
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: COCH
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GJB2
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KCNQ4
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYO6
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYO7A
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC26A4
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TECTA
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: USH2A
Version: 2.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TECTA
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KCNQ4
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC26A4
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYO7A
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: USH2A
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYO6
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GJB2
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: COCH
Version: 1.0.0
Released: 8/15/2018
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH23
Version: 1.0.0
Released: 8/15/2018
ClinGen Phenylketonuria Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PAH
Version: 2.0.0
Released: 7/16/2024
ClinGen PAH Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PAH
Version: 1.0.0
Released: 3/2/2018
ClinGen CDH1 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH1
Version: 3.1.0
Released: 3/29/2022
ClinGen CDH1 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH1
Version: 3.0.0
Released: 9/21/2021
ClinGen CDH1 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH1
Version: 2.0.0
Released: 9/6/2019
ClinGen CDH1 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CDH1
Version: 1.0.0
Released: 9/19/2018
ClinGen Myeloid Malignancy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RUNX1
Version: 2.0.0
Released: 9/15/2021
ClinGen Myeloid Malignancy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RUNX1
Version: 1.0.0
Released: 7/10/2019
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 2.3.0
Released: 2/7/2025
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 2.2.0
Released: 9/30/2024
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 2.1.0
Released: 9/13/2024
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 2.0.0
Released: 7/30/2024
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 1.4.0
Released: 7/5/2023
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 1.3.0
Released: 3/8/2023
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TP53
Version: 1.2.0
Released: 8/6/2019
ClinGen TP53 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: GAA
Version: 2.0.0
Released: 6/2/2021
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGA2B
Version: 2.1.0
Released: 11/1/2021
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGB3
Version: 2.1.0
Released: 11/1/2021
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGA2B
Version: 2.0.0
Released: 9/4/2020
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGB3
Version: 2.0.0
Released: 9/4/2020
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGA2B
Version: 1.0.0
Released: 6/12/2020
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ITGB3
Version: 1.0.0
Released: 6/12/2020
ClinGen Malignant Hyperthermia Susceptibility Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RYR1
Version: 2.0.0
Released: 3/1/2022
ClinGen Malignant Hyperthermia Susceptibility Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RYR1
Version: 1.0.0
Released: 11/9/2020
ClinGen Familial Hypercholesterolemia Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: SLC19A3
Version: 1.0.0
Released: 4/30/2020
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PDHA1
Version: 1.0.0
Released: 4/30/2020
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: POLG
Version: 1.0.0
Released: 4/30/2020
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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: 1.0.0
Released: 4/30/2020
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF1A
Version: 2.1.0
Released: 8/11/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF1A
Version: 2.0.0
Released: 1/11/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF1A
Version: 1.2.0
Released: 6/5/2021
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF1A
Version: 1.1.0
Released: 6/5/2021
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF1A
Version: 1.0.0
Released: 6/4/2021
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: AKT3
Version: 1.1.0
Released: 8/19/2022
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MTOR
Version: 1.1.0
Released: 8/19/2022
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PIK3CA
Version: 1.1.0
Released: 8/19/2022
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PIK3R2
Version: 1.1.0
Released: 8/19/2022
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: AKT3
Version: 1.0.0
Released: 5/15/2021
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MTOR
Version: 1.0.0
Released: 5/15/2021
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PIK3CA
Version: 1.0.0
Released: 5/15/2021
ClinGen Brain Malformations Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PIK3R2
Version: 1.0.0
Released: 5/15/2021
ClinGen Glaucoma Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYOC
Version: 2.0.0
Released: 12/12/2024
ClinGen Glaucoma Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYOC
Version: 1.1.0
Released: 11/19/2021
ClinGen Glaucoma Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: ATM
Version: 1.0.0
Released: 1/19/2022
ClinGen ACADVL Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACADVL
Version: 1.0.0
Released: 11/9/2021
ClinGen FBN1 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: FBN1
Version: 1.0.0
Released: 1/5/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYO15A
Version: 1.0.0
Released: 3/30/2022
ClinGen Hearing Loss Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: DICER1
Version: 1.0.0
Released: 5/5/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GATM
Version: 2.0.0
Released: 12/3/2024
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GATM
Version: 1.1.0
Released: 9/14/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GATM
Version: 1.0.0
Released: 3/21/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GAMT
Version: 2.0.0
Released: 5/23/2024
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GAMT
Version: 1.1.0
Released: 9/14/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GAMT
Version: 1.0.0
Released: 3/21/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC6A8
Version: 1.2.0
Released: 4/10/2025
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC6A8
Version: 1.1.0
Released: 9/14/2022
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: CDKL5
Version: 2.0.0
Released: 12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: FOXG1
Version: 2.0.0
Released: 12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MECP2
Version: 2.0.0
Released: 12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC9A6
Version: 2.0.0
Released: 12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TCF4
Version: 2.0.0
Released: 12/31/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: CDKL5
Version: 1.0.0
Released: 2/17/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: FOXG1
Version: 1.0.0
Released: 2/17/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MECP2
Version: 1.0.0
Released: 2/17/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SLC9A6
Version: 1.0.0
Released: 2/17/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TCF4
Version: 1.0.0
Released: 2/17/2021
ClinGen Rett and Angelman-like Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: 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
Gene: UBE3A
Version: 3.0.0
Released: 11/10/2022
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SHOC2
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SHOC2
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SHOC2
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SHOC2
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SHOC2
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NRAS
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAF1
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS1
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS2
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTPN11
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KRAS
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K1
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HRAS
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RIT1
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K2
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRAF
Version: 1.0.0
Released: 7/18/2017
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NRAS
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NRAS
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NRAS
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NRAS
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAF1
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAF1
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAF1
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAF1
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS1
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS1
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS1
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS1
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS2
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS2
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS2
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SOS2
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTPN11
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTPN11
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTPN11
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PTPN11
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KRAS
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KRAS
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KRAS
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: KRAS
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K1
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K1
Version: 2.2.0
Released: 12/2/2024