Do you currently use or submit clinical variation data? NCBI now has a new mechanism to improve ClinVar data quality. Since ClinVar’s founding over 10 years ago, the amount of information in this free resource has expanded dramatically with submissions from research and clinical laboratories all over the world. Because of the large volume of data and the importance of data quality, we are working with ClinGen biocurators to address problematic records for variants that do not require the efforts of an expert panel. 

What’s new?

ClinVar and ClinGen have established a new process for ClinGen biocurators to review submitted records in ClinVar. A problematic record will be curated by ClinGen as a candidate to be flagged in ClinVar. We will notify relevant submitters giving them an opportunity to review and update their data. If the submitter does not provide an update, the problematic record will be flagged in ClinVar, so that it does not contribute to the overall classification. The record, however, will remain accessible in the database (Figure 1). This will reduce the number of variants with a conflict in the classification and improve the accuracy of the ClinVar dataset.   Continue reading “ClinVar Partners with ClinGen to Review & Curate Submitted Records” →