ClinGen Gene-Disease Validity Curation Module

This ClinGen Gene-Disease Validity Curation module is intended to provide learners with educational credit for participating in ClinGen gene curation activities and is available to individuals who are existing members of ClinGen GCEPs and have had at least one gene curation previously approved by a ClinGen GCEP. The module is available through the ACMG Genetics Academy.

Course Objectives

  • Use the ClinGen vetted gene-disease clinical validity curation process to evaluate the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease
  • Perform a literature search to identify relevant publications to support a gene curation
  • Score collected/collated evidence in the ClinGen GCI to determine a provisional classification for a gene-disease pair based on guidelines
  • Present evidence summary supporting provisional classification for expert approval
  • Publish approved gene curation to clinicalgenome.org

For the purpose of this module, learning objectives will be demonstrated by the learner by submitting a ClinGen GCEP-approved gene-disease curation final evidence summary published on clinicalgenome.org. Each curation has been approved for up to 10 hours of credit. You may submit up to 10 curations per year. Please complete a separate module for each curation you are submitting. The module is set up on a calendar year schedule, please submit curations completed in 2020 by 12/31/20. A new cycle begins on 1/1/21. 

ClinGen Gene-Disease Validity Curation Module Description

Full description of the ClinGen Gene-Disease Validity Curation module.

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Instructions to access ClinGen Gene Curation Course

Follow these instructions to access the ACMG Genetics Academy as a first time or returning user.

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