New Automated Validation in ClinVar Submission

You, as a submitter, are the beating heart of ClinVar. Your contributions helps thousands of genetic counselors and clinicians, as well as their patients and patients’ family members. We have added validation to the online file submissions portal, so that you submitters have more control over how to deal with errors in your submitted files.

You now have two options when submitting data. You can submit any data that passes validation and receive a report of the data that failed. The failed data can be reviewed and resubmitted when it’s convenient for you.

Alternatively, you can choose to get messages about submission errors immediately, fix errors and re-submit right away. Either way, you don’t have to spend time fixing those submission errors that our automated validation already sent to you, and you can continue to trust the high quality in ClinVar released data.

Highlights of what we’ve added to ClinVar submission:

  • Validation of the following fields: Variant, Condition, Clinical Significance, Allele Origin, Affected Status, and Collection Method
  • Validation for submissions in Excel, tsv, and csv formats
  • Record-level errors with detailed description of each problem and how to fix it
  • Options to stop the submission to correct errors immediately, or to submit any data that passes validation and receive a report of any failures to act on later

We will continue add more types of validation to provide you with meaningful error messages for your submission. Watch this short video to see how automated validation works – and don’t forget to like it if you find it useful!

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