One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants.

About Gene Curation Expert Panels
Gene Curation Expert Panels implement an approved process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.

Interested in volunteering to curate for ClinGen? Please take this brief survey to tell us more about your interests, expertise, and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel. 

Interested in contributing your expert knowledge and/or data to a ClinGen GCEP? Please take this brief survey to tell us more about your interests and expertise so we can pair you with the approproate GCEP, if available. 

Interested in starting an Expert Panel? See our guidelines for applying for Gene Curation Expert Panel Status.

About Variant Curation Expert Panels
Variant Curation Expert Panels evaluate evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.

Interested in volunteering to curate for ClinGen? Please take this brief survey to tell us more about your interests, expertise, and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel. 

Interested in contributing your expert knowledge and/or data to a ClinGen VCEP? Please take this brief survey to tell us more about your interests and expertise so we can pair you with the approproate VCEP, if available. 

Interested in starting an Expert Panel? See our guidelines for applying for Variant Curation Expert Panel Status.


Expert Panel Name Type CDWG Status
Cardiomyopathy Variant Curation Expert Panel VCEP Cardiovascular CDWG
Congenital Heart Disease Variant Curation Expert PanelIn Process VCEP Cardiovascular CDWG
Desmosomal Cardiomyopathy Variant Curation Expert PanelIn Process VCEP Cardiovascular CDWG
Familial Hypercholesterolemia Variant Curation Expert Panel VCEP Cardiovascular CDWG
FBN1 Variant Curation Expert Panel VCEP Cardiovascular CDWG
Potassium Channel Arrhythmia Variant Curation Expert Panel VCEP Cardiovascular CDWG
Pulmonary Hypertension Variant Curation Expert Panel VCEP Cardiovascular CDWG
RYR2 Variant Curation Expert PanelIn Process VCEP Cardiovascular CDWG
Sodium and Calcium Channel Arrhythmia Variant Curation Expert PanelIn Process VCEP Cardiovascular CDWG
Monogenic Diabetes Variant Curation Expert Panel VCEP Endocrinology CDWG
Hearing Loss Variant Curation Expert Panel VCEP Hearing Loss CDWG
Coagulation Factor Deficiency Variant Curation Expert Panel VCEP Hemostasis/Thrombosis CDWG
Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel VCEP Hemostasis/Thrombosis CDWG
Platelet Disorders Variant Curation Expert Panel VCEP Hemostasis/Thrombosis CDWG
Thrombosis Variant Curation Expert Panel VCEP Hemostasis/Thrombosis CDWG
von Willebrand Disease Variant Curation Expert Panel VCEP Hemostasis/Thrombosis CDWG
DICER1 and miRNA-Processing Gene Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Endocrine Tumor Predisposition Variant Curation Expert PanelIn Process VCEP Hereditary Cancer CDWG
ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Gastric Cancer Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Myeloid Malignancy Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Neurofibromatoses and schwannomatosis Variant Curation Expert PanelIn Process VCEP Hereditary Cancer CDWG
Ocular Oncology Variant Curation Expert PanelIn Process VCEP Hereditary Cancer CDWG
PTEN Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
TP53 Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
VHL Variant Curation Expert Panel VCEP Hereditary Cancer CDWG
Antibody Deficiencies Variant Curation Expert Panel VCEP Immunology CDWG
Hereditary Angioedema Variant Curation Expert PanelIn Process VCEP Immunology CDWG
Severe Combined Immunodeficiency Disease Variant Curation Expert Panel VCEP Immunology CDWG
ACADVL Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert PanelIn Process VCEP Inborn Errors Metabolism CDWG
Galactosemia Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Glucose-6-phosphate dehydrogenase Variant Curation Expert PanelIn Process VCEP Inborn Errors Metabolism CDWG
Lysosomal Diseases Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Peroxisomal Disorders Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Phenylketonuria Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Propionic Acidemia and Methylmalonic Acidemia Variant Curation Expert PanelIn Process VCEP Inborn Errors Metabolism CDWG
Urea Cycle Disorders Variant Curation Expert Panel VCEP Inborn Errors Metabolism CDWG
Alport Syndrome Variant Curation Expert PanelIn Process VCEP Kidney Disease CDWG
Kidney Cystic and Ciliopathy Disorders Variant Curation Expert PanelIn Process VCEP Kidney Disease CDWG
Brain Malformations Variant Curation Expert Panel VCEP Neurodevelopmental Disorders CDWG
Epilepsy Sodium Channel Variant Curation Expert Panel VCEP Neurodevelopmental Disorders CDWG
GRIN Disorders Variant Curation Expert PanelIn Process VCEP Neurodevelopmental Disorders CDWG
Leukodystrophy and Leukoencephalopathy Variant Curation Expert PanelIn Process VCEP Neurodevelopmental Disorders CDWG
Rett and Angelman-like Disorders Variant Curation Expert Panel VCEP Neurodevelopmental Disorders CDWG
Amyotrophic Lateral Sclerosis Spectrum Disorders Variant Curation Expert PanelIn Process VCEP Neurological Disorders CDWG
Charcot-Marie-Tooth Disease Variant Curation Expert PanelIn Process VCEP Neurological Disorders CDWG
Congenital Myopathies Variant Curation Expert Panel VCEP Neurological Disorders CDWG
Limb Girdle Muscular Dystrophy Variant Curation Expert Panel VCEP Neurological Disorders CDWG
Parkinson's Disease Variant Curation Expert PanelIn Process VCEP Neurological Disorders CDWG
ABCA4 Variant Curation Expert Panel VCEP Ocular CDWG
Albinism Variant Curation Expert PanelIn Process VCEP Ocular CDWG
Glaucoma Variant Curation Expert Panel VCEP Ocular CDWG
Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel VCEP Ocular CDWG
Maculopathy Variant Curation Expert PanelIn Process VCEP Ocular CDWG
Ocular Anterior Segment Disorder Variant Curation Expert PanelIn Process VCEP Ocular CDWG
Optic Nerve Atrophy Variant Curation Expert PanelIn Process VCEP Ocular CDWG
Pediatric Cataract Variant Curation Expert PanelIn Process VCEP Ocular CDWG
Rhodopsin Variant Curation Expert PanelIn Process VCEP Ocular CDWG
X-linked Inherited Retinal Disease Variant Curation Expert Panel VCEP Ocular CDWG
Hemoglobinopathy Variant Curation Expert Panel VCEP Other CDWG
Malignant Hyperthermia Susceptibility Variant Curation Expert Panel VCEP Other CDWG
Motile Ciliopathy Variant Curation Expert PanelIn Process VCEP Pulmonary CDWG
RASopathy Variant Curation Expert Panel VCEP RASopathy CDWG
BCR::ABL1-like B-lymphoblastic Leukemia/Lymphoma SC- Variant Curation Expert PanelIn Process VCEP Somatic CDWG
EGFR Somatic Cancer Variant Curation Expert PanelIn Process VCEP Somatic CDWG
Established Significance SC- Variant Curation Expert PanelIn Process VCEP Somatic CDWG
Fibroblast Growth Factor Receptor Mutations (SNVs) Variant Curation Expert PanelIn Process VCEP Somatic CDWG
FLT3 (Fms Related Receptor Tyrosine Kinase 3) Variant Curation Expert PanelIn Process VCEP Somatic CDWG
Histone H3 SC Variant Curation Expert PanelIn Process VCEP Somatic CDWG
MAPK/ERK Pathway Variant Curation Expert PanelIn Process VCEP Somatic CDWG
NTRK Fusions Somatic Cancer Variant Curation Expert Panel VCEP Somatic CDWG