Phenotyping

The ClinGen Phenotype Working Group aims to support the collection and submission of phenotypic data to ClinGen-related resources.

Goals

  • Support standardized submission of disease and phenotype terms to ClinVar.
  • Support Clinical Domain Working Groups in selecting appropriate ontologies for their respective clinical domains.

Projects & Initiatives

  • Preferred Condition List for ClinVar Submissions

    ClinGen has a list of approximately 240 genes, including the ACMG 56 genes related to actionable secondary findings on exome sequencing. Many of the genes are associated with the conditions most frequently submitted to ClinVar. In many cases, different ClinVar submitters use different names for the same condition. This can be a source of confusion among users of the ClinVar database.
  • Phenotype Submission Resources

    Additional information about Phenotype Submission Resources available by clicking the link above.

Leadership & Members

Chair
Coordinator
Members