📢 The ClinGen Gene Curation workflow now supports the addition of ClinVar submissions as evidence for gene-disease validity curations:
We are excited to announce a new element of the gene curation process, which is the ability to annotate, score, and publish the use of versioned ClinVar VCVs and SCVs for gene curation. This new feature is now included in our Gene Curation Interface (GCI) and further adds to the repertoire of data that can be included, and scored, in gene curations, beyond published manuscripts and/or articles.
We encourage those individuals with currently unpublished case level data to consider submitting the information (e.g., variant, phenotypes, disease assertion) to ClinVar so ClinGen can utilize it in gene, as well as variant curation.
All curated evidence will appear on the ClinGen website (www.clinicalgenome.org).
We would like to acknowledge the hard work of our ClinGen Stanford Development Team, our collaborators on the ClinGen GeneGraph, and the ClinGen Website teams for their support in ensuring end-to-end functionality of this feature across ClinGen systems!
A guide for the new GCI feature is available here → https://lnkd.in/gXpJCNJX