owencqueen/cgbench_data huggingface dataset:
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 1.0.0
Genes: SCN1B
Version: 1.0.0 (released 3/19/2024)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.1.0
Genes: PALB2
Version: 1.1.0 (released 11/28/2023)
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0
Genes: PALB2
Version: 1.0.0 (released 3/17/2023)
ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.1.0
Genes: VHL
Version: 1.1.0 (released 1/10/2025)
ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.0.0
Genes: VHL
Version: 1.0.0 (released 2/29/2024)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BA Version 1.0.0
Genes: GP1BA
Version: 1.0.0 (released 2/12/2025)
ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0
Genes: F9
Version: 1.0.0 (released 10/5/2023)
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0
Genes: VWF
Version: 1.0.0 (released 7/9/2024)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BB Version 1.0.0
Genes: GP1BB
Version: 1.0.0 (released 2/12/2025)
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP9 Version 1.0.0
Genes: GP9
Version: 1.0.0 (released 2/11/2025)
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.1.0
Genes: SERPINC1
Version: 1.1.0 (released 2/7/2025)
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0
Genes: SERPINC1
Version: 1.0.0 (released 7/17/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0
Genes: HNF4A
Version: 2.0.0 (released 10/11/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.1.0
Genes: HNF4A
Version: 1.1.0 (released 8/11/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.0.0
Genes: HNF4A
Version: 1.0.0 (released 11/16/2022)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 2.0.0
Genes: GCK
Version: 2.0.0 (released 2/17/2025)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0
Genes: GCK
Version: 1.3.0 (released 8/11/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.2.0
Genes: GCK
Version: 1.2.0 (released 6/7/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.1.0
Genes: GCK
Version: 1.1.0 (released 3/23/2023)
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.0.0
Genes: GCK
Version: 1.0.0 (released 11/16/2022)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.4.0
Genes: MRAS
Version: 1.4.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.3.0
Genes: MRAS
Version: 1.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.2.0
Genes: MRAS
Version: 1.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.1.0
Genes: MRAS
Version: 1.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.0.0
Genes: MRAS
Version: 1.0.0 (released 8/3/2024)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0
Genes: APC
Version: 2.1.0 (released 11/24/2023)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.0.3
Genes: APC
Version: 2.0.3 (released 7/24/2023)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 1.0.0
Genes: APC
Version: 1.0.0 (released 1/10/2023)
ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0
Genes: IDUA
Version: 1.0.0 (released 12/5/2024)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.2.0
Genes: BRCA1
Version: 1.2.0 (released 1/9/2025)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.1.0
Genes: BRCA1
Version: 1.1.0 (released 12/21/2023)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0
Genes: BRCA1
Version: 1.0.0 (released 8/9/2023)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.3.0
Genes: LZTR1
Version: 1.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.2.0
Genes: LZTR1
Version: 1.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.1.0
Genes: LZTR1
Version: 1.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.0.0
Genes: LZTR1
Version: 1.0.0 (released 8/3/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0
Genes: MYBPC3
Version: 1.0.0 (released 4/22/2024)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.2.0
Genes: BRCA2
Version: 1.2.0 (released 1/9/2025)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.1.0
Genes: BRCA2
Version: 1.1.0 (released 12/21/2023)
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0
Genes: BRCA2
Version: 1.0.0 (released 8/9/2023)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNI3 Version 1.0.0
Genes: TNNI3
Version: 1.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 Version 1.0.0
Genes: TNNT2
Version: 1.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TPM1 Version 1.0.0
Genes: TPM1
Version: 1.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTC1 Version 1.0.0
Genes: ACTC1
Version: 1.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL2 Version 1.0.0
Genes: MYL2
Version: 1.0.0 (released 4/22/2024)
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL3 Version 1.0.0
Genes: MYL3
Version: 1.0.0 (released 4/22/2024)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0
Genes: FOXN1
Version: 1.0.0 (released 7/29/2024)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0
Genes: ADA
Version: 1.0.0 (released 10/9/2023)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1 Version 1.0.0
Genes: MLH1
Version: 1.0.0 (released 8/9/2024)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0
Genes: DCLRE1C
Version: 1.0.0 (released 10/9/2023)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL7R Version 1.0.0
Genes: IL7R
Version: 1.0.0 (released 10/9/2023)
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0
Genes: RPE65
Version: 1.0.0 (released 10/24/2023)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0
Genes: JAK3
Version: 1.0.0 (released 10/9/2023)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0
Genes: RAG1
Version: 1.0.0 (released 10/9/2023)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0
Genes: RAG2
Version: 1.0.0 (released 10/9/2023)
ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0
Genes: BMPR2
Version: 1.1.0 (released 4/6/2024)
ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.0.0
Genes: BMPR2
Version: 1.0.0 (released 3/1/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.3.0
Genes: RRAS2
Version: 1.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.2.0
Genes: RRAS2
Version: 1.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.1.0
Genes: RRAS2
Version: 1.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.0.0
Genes: RRAS2
Version: 1.0.0 (released 8/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.3.0
Genes: PPP1CB
Version: 1.3.0 (released 12/3/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.2.0
Genes: PPP1CB
Version: 1.2.0 (released 12/2/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.1.0
Genes: PPP1CB
Version: 1.1.0 (released 9/17/2024)
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.0.0
Genes: PPP1CB
Version: 1.0.0 (released 8/3/2024)
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 1.0.0
Genes: IL2RG
Version: 1.0.0 (released 10/9/2023)
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.1.0
Genes: ACVRL1
Version: 1.1.0 (released 3/20/2024)
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.0.0
Genes: ACVRL1
Version: 1.0.0 (released 3/5/2024)
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.1.0
Genes: ENG
Version: 1.1.0 (released 3/20/2024)
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.0.0
Genes: ENG
Version: 1.0.0 (released 3/5/2024)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH2 Version 1.0.0
Genes: MSH2
Version: 1.0.0 (released 8/9/2024)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 1.0.0
Genes: MSH6
Version: 1.0.0 (released 8/9/2024)
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0
Genes: PMS2
Version: 1.0.0 (released 8/9/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NEB Version 1.0.0
Genes: NEB
Version: 1.0.0 (released 8/7/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 2.0.0
Genes: ACTA1
Version: 2.0.0 (released 8/27/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 1.0.0
Genes: ACTA1
Version: 1.0.0 (released 8/7/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0
Genes: DNM2
Version: 1.0.0 (released 8/7/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTM1 Version 1.0.0
Genes: MTM1
Version: 1.0.0 (released 8/7/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0
Genes: RYR1
Version: 2.0.0 (released 12/12/2024)
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0
Genes: RYR1
Version: 1.0.0 (released 8/7/2024)
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GUCY2D Version 1.0.0
Genes: GUCY2D
Version: 1.0.0 (released 1/22/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DYSF Version 1.0.0
Genes: DYSF
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCB Version 1.0.0
Genes: SGCB
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCG Version 1.0.0
Genes: SGCG
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCD Version 1.0.0
Genes: SGCD
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CAPN3 Version 1.0.0
Genes: CAPN3
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ANO5 Version 1.0.0
Genes: ANO5
Version: 1.0.0 (released 1/7/2025)
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCA Version 1.0.0
Genes: SGCA
Version: 1.0.0 (released 1/7/2025)