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.

Training Materials

Variant curation training aims to familiarize variant biocurators with general variant assessment information and ClinGen variant curation procedures and resources.

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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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Variant Curation Results

View detailed evidence supporting the curations of approved ClinGen Variant Curation Expert Panels through the ClinGen Evidence Repository.

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FDA Recognition

Variants curated by ClinGen Variant Curation Expert Panels have been recognized by the FDA as a source of valid scientific evidence that can support clinical validity.  Click here to learn more about the FDA's recognition of ClinGen as a public human genetic variant database.

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