ClinGen Curation Activities

Find education materials, access tools, and view results for each of our curation activities by clicking the boxes below.

Gene-Disease Validity

Can variation in this gene cause disease?

Variant Pathogenicity

Which changes in this gene cause disease?

Clinical Actionability

How does this genetic diagnosis impact medical management?

Dosage Sensitivity

Is haploinsufficiency or triplosensitivity an established disease mechanism for this gene?

Interested in curation?

ClinGen encourages clinicians, laboratory diagnosticians, and researchers to form expert curation groups to evaluate the genes and variants within particular disease domains. 

Form an Expert Panel

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Current Expert Panels & Clinical Domain Working Groups

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