About ClinGen Curation Groups

ClinGen's curations groups are implementing the standards developed by our curation activities to improve genomics knowledge.


Clinical Domain Working Groups

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.  Read more »

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 curating? Contact us at clingen@clinicalgenome.org to see if it's possible to join a gene curation committee in your area of expertise.

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.

The Expert Panel Approval Process - Expert Panels go through a strict review and approval process. Interested in becoming an Expert Panel?

Clinical Domain WG Expert Panel Status
Cardiovascular CDWG Brugada Syndrome Gene Curation Expert Panel Status -
Dilated Cardiomyopathy/Arrhythmogenic right ventricular cardiomyopathy Gene Curation Expert Panel (In progress) Status -
Familial Hypercholesterolemia Variant Curation Expert Panel (In progress) Status - Step 3
Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel Status -
Hypertrophic Cardiomyopathy Gene Curation Expert Panel Status -
Inherited Cardiomyopathy Variant Curation Expert Panel Status - Step 4
KCNQ1 Variant Curation Expert Panel (In progress) Status - Step 2
Long QT Syndrome Gene Curation Expert Panel (In progress) Status -
Hearing Loss CDWG Hereditary Hearing Loss Gene Curation Expert Panel Status -
Hereditary Hearing Loss Variant Curation Expert Panel (In progress) Status - Step 3
Hemostasis/Thrombosis CDWG Platelet Disorders Expert Panel N/A
Hereditary Cancer CDWG Breast and Ovarian Cancer Gene Curation Expert Panel Status -
CDH1 Variant Curation Expert Panel (In progress) Status - Step 3
Colon Cancer and Polyposis Gene Curation Expert Panel Status -
Hereditary Cancer Gene Curation Working Group (In progress) Status -
Myeloid Malignancy Variant Curation Expert Panel (In progress) Status - Step 1
PTEN Variant Curation Expert Panel (In progress) Status - Step 3
Somatic/Germline Variant Curation Group (In progress) Status - Step 1
TP53 Variant Curation Expert Panel (In progress) Status - Step 3
Inborn Errors of Metabolism CDWG Aminoacidopathy Gene Curation Expert Panel (In progress) Status -
Fatty Acid Oxidation Gene Curation Expert Panel (In progress) Status -
GAA Expert Panel (In progress) Status - Step 2
Mitochondrial Disease Gene Curation Expert Panel (In progress) Status -
Mitochondrial Disease Variant Curation Expert Panel (In progress) Status - Step 3
PAH Variant Curation Expert Panel Status - Step 4
Monogenic Diabetes CDWG Monogenic Diabetes Variant Curation Expert Panel (In progress) Status - Step 2
Neurodevelopmental Disorders CDWG Epilepsy Gene Curation Expert Panel Status -
Intellectual Disability/Autism Gene Curation Expert Panel Status -
Rett/Angelman-like Variant Curation Expert Panel (In progress) Status - Step 2
RASopathy CDWG RASopathy Gene Curation Committee Status -
RASopathy Variant Curation Expert Panel Status - Step 4