owencqueen/cgbench_data huggingface dataset:
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K1
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K1
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HRAS
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HRAS
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HRAS
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HRAS
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RIT1
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RIT1
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RIT1
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RIT1
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K2
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K2
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K2
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MAP2K2
Version: 2.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRAF
Version: 2.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRAF
Version: 2.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRAF
Version: 2.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRAF
Version: 2.0.0
Released: 8/3/2024
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN1A
Version: 2.0.0
Released: 1/7/2025
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN1A
Version: 1.0.0
Released: 3/19/2024
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN2A
Version: 2.0.0
Released: 1/7/2025
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN2A
Version: 1.0.0
Released: 3/19/2024
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN3A
Version: 2.0.0
Released: 1/7/2025
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN3A
Version: 1.0.0
Released: 3/19/2024
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN8A
Version: 2.0.0
Released: 1/7/2025
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN8A
Version: 1.0.0
Released: 3/19/2024
ClinGen Coagulation Factor Deficiency Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: F8
Version: 1.0.0
Released: 10/5/2023
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SCN1B
Version: 2.0.0
Released: 1/7/2025
ClinGen Epilepsy Sodium Channel Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: PALB2
Version: 1.0.0
Released: 3/17/2023
ClinGen VHL Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: VHL
Version: 1.1.0
Released: 1/10/2025
ClinGen VHL Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: VHL
Version: 1.0.0
Released: 2/29/2024
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GP1BA
Version: 1.0.0
Released: 2/12/2025
ClinGen Coagulation Factor Deficiency Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: F9
Version: 1.0.0
Released: 10/5/2023
ClinGen von Willebrand Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: VWF
Version: 1.0.0
Released: 7/9/2024
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GP1BB
Version: 1.0.0
Released: 2/12/2025
ClinGen Platelet Disorders Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GP9
Version: 1.0.0
Released: 2/11/2025
ClinGen Thrombosis Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SERPINC1
Version: 1.1.0
Released: 2/7/2025
ClinGen Thrombosis Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SERPINC1
Version: 1.0.0
Released: 7/17/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF4A
Version: 2.0.0
Released: 10/11/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF4A
Version: 1.1.0
Released: 8/11/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: HNF4A
Version: 1.0.0
Released: 11/16/2022
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GCK
Version: 2.0.0
Released: 2/17/2025
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GCK
Version: 1.3.0
Released: 8/11/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GCK
Version: 1.2.0
Released: 6/7/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GCK
Version: 1.1.0
Released: 3/23/2023
ClinGen Monogenic Diabetes Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: GCK
Version: 1.0.0
Released: 11/16/2022
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MRAS
Version: 1.4.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MRAS
Version: 1.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MRAS
Version: 1.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MRAS
Version: 1.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: APC
Version: 1.0.0
Released: 1/10/2023
ClinGen Lysosomal Diseases Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: IDUA
Version: 1.0.0
Released: 12/5/2024
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA1
Version: 1.2.0
Released: 1/9/2025
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA1
Version: 1.1.0
Released: 12/21/2023
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA1
Version: 1.0.0
Released: 8/9/2023
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: LZTR1
Version: 1.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: LZTR1
Version: 1.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: LZTR1
Version: 1.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: LZTR1
Version: 1.0.0
Released: 8/3/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYBPC3
Version: 1.0.0
Released: 4/22/2024
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA2
Version: 1.2.0
Released: 1/9/2025
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA2
Version: 1.1.0
Released: 12/21/2023
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BRCA2
Version: 1.0.0
Released: 8/9/2023
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TNNI3
Version: 1.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TNNT2
Version: 1.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: TPM1
Version: 1.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACTC1
Version: 1.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYL2
Version: 1.0.0
Released: 4/22/2024
ClinGen Cardiomyopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MYL3
Version: 1.0.0
Released: 4/22/2024
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: FOXN1
Version: 1.0.0
Released: 7/29/2024
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: MLH1
Version: 1.0.0
Released: 8/9/2024
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: DCLRE1C
Version: 1.0.0
Released: 10/9/2023
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: RPE65
Version: 1.0.0
Released: 10/24/2023
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: JAK3
Version: 1.0.0
Released: 10/9/2023
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAG1
Version: 1.0.0
Released: 10/9/2023
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RAG2
Version: 1.0.0
Released: 10/9/2023
ClinGen Pulmonary Hypertension Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BMPR2
Version: 1.1.0
Released: 4/6/2024
ClinGen Pulmonary Hypertension Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: BMPR2
Version: 1.0.0
Released: 3/1/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RRAS2
Version: 1.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RRAS2
Version: 1.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RRAS2
Version: 1.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RRAS2
Version: 1.0.0
Released: 8/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PPP1CB
Version: 1.3.0
Released: 12/3/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PPP1CB
Version: 1.2.0
Released: 12/2/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PPP1CB
Version: 1.1.0
Released: 9/17/2024
ClinGen RASopathy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: PPP1CB
Version: 1.0.0
Released: 8/3/2024
ClinGen Severe Combined Immunodeficiency Disease Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: IL2RG
Version: 1.0.0
Released: 10/9/2023
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACVRL1
Version: 1.1.0
Released: 3/20/2024
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACVRL1
Version: 1.0.0
Released: 3/5/2024
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ENG
Version: 1.1.0
Released: 3/20/2024
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: 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
Gene: 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
Gene: PMS2
Version: 1.0.0
Released: 8/9/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: NEB
Version: 1.0.0
Released: 8/7/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACTA1
Version: 2.0.0
Released: 8/27/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ACTA1
Version: 1.0.0
Released: 8/7/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: DNM2
Version: 1.0.0
Released: 8/7/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: MTM1
Version: 1.0.0
Released: 8/7/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: RYR1
Version: 2.0.0
Released: 12/12/2024
ClinGen Congenital Myopathies Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: 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
Gene: GUCY2D
Version: 1.0.0
Released: 1/22/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: DYSF
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SGCB
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SGCG
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SGCD
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: CAPN3
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: ANO5
Version: 1.0.0
Released: 1/7/2025
ClinGen Limb Girdle Muscular Dystrophy Expert Panel specifications to the ACMG/AMP variant interpretation guidelines
Gene: SGCA
Version: 1.0.0
Released: 1/7/2025