Gene-Disease Clinical Validity Curation

The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.

The ClinGen Gene Curation working group has developed a framework to standardize the approach to determine the clinical validity for a gene-disease pair. This framework:

  • Defines the criteria needed to assess clinical validity
  • Describes the evidence supporting a gene-disease association in a semi-quantitative manner, and
  • Allows curators to use this information to methodically classify the validity of a given gene-disease pair.
Educational and Training Materials

Powerpoint slides, videos, handouts, etc. for those interested in curating gene-disease pairs using the ClinGen method.

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Current Standard Operating Procedure

Detailed documentation outlining the gene disease validity process.

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Documents & Announcements

Documents and announcements related to Gene-Disease Clinical Validity Curation.

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Gene Curation Interface

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

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Gene-Disease Clinical Validity Results

Current gene-disease pairs that have been evaluated by ClinGen for clinical validity.

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Interested in sharing data with ClinGen?

Further information and policy for data contributors

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Claim Educational Credit for ClinGen Gene-Disease Validity Curations

This module offered through the ACMG Genetics Academy is intended to provide learners with educational credit for participating in ClinGen gene curation activities.

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