Variant Pathogenicity Curation

ClinGen variant curation utilizes the 2015 American College of Medical Genetics and Genomics (ACMG) guideline for sequence variant interpretation, which provides an evidence-based framework to classify variants. The results of these analyses will be deposited in ClinVar for community access.

The Process

Learn more about the variant evaluation process.

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Educational and Training Materials

Powerpoint slides, videos, handouts, etc. for those interested in learning more about the variant curation process.

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Variant Pathogenicity Curation Interface

Currently available for ClinGen biocurators and expert panels.  Click here to view a demo version.

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