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.

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

The ClinGen Variant Curation Interface is available for public use.

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Documents & Announcements

Documents and announcements related to Variant Pathogenicity Curation.

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