ClinGen
About the resource
ClinGen is an NIH-funded consortium (NHGRI, NICHD) building expert-curated, clinical-grade knowledge about the relationship between genes, variants and disease. It coordinates Gene Curation Expert Panels (GCEPs) that classify gene–disease validity (Definitive, Strong, Moderate, Limited, Disputed, Refuted, No Known Disease Relationship) using a structured framework, and Variant Curation Expert Panels (VCEPs) that classify individual variants using disease-specific ACMG/AMP rule adaptations.
Its other major outputs include the Dosage Sensitivity curation (haploinsufficiency and triplosensitivity), Actionability summaries (do clinical interventions exist if a variant is found?), and the standardised SOPs that VCEPs use when submitting to ClinVar with three-star expert-panel review status. CC BY-NC-SA.
What you'd use it for
- 01Look up the expert-curated validity of a gene–disease assertion
- 02Find the disease-specific ACMG rule specifications used by a VCEP
- 03Audit dosage-sensitivity and actionability for a candidate gene panel
- 04Pull three-star ClinVar interpretations curated by ClinGen VCEPs