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.
Figure 1: Example of a problematic record that would be flagged in ClinVar. (Note: This is test data.)
Common reasons for a record to be flagged include:
- Older records that are missing recent evidence compared to newer submitted records
- Outlier records that conflict with most other submitted records without providing evidence to support the conflicting claim
- Records that cause a conflict based on interpretation for a condition that is not the primary or most relevant disease association for the gene
What’s Next?
Some problematic records can be identified automatically without the need for manual curation by the ClinGen biocurators. For example, some records are submitted as novel when they were intended to be updates to existing records. For these cases, we are developing an automated process to alert submitters to the duplicate records, request an update, and flag the record if it’s not updated.
Learn More
Learn how to submit your data to ClinVar! For more information about ClinVar and for step-by-step instructions on how to use it, check out our Help Documentation.
Stay up to date
Follow us on social @NCBI and join our mailing list to keep up to date with ClinVar and other NCBI news.
Questions?
If you have questions or would like to provide feedback, please write to our help desk.