Wondering why 2,100 submitters from 83 countries have deposited more than 1.9 million records of their latest variation information in ClinVar? Curious about why genetic counselors, physicians, researchers, and so many others enthusiastically use data for nearly 1.2 million unique variants in ClinVar? Thinking about becoming part of this global community and sharing your knowledge to further science and make an impact on patient health? Well, we thought we should help you along by making the case for why everyone should submit to ClinVar.

#1: Every deposit can help a patient

The healthcare community relies on the standardized view offered by ClinVar variant reports, which include interpretations of clinical significance in relation to Mendelian disease, cancer and pharmacogenetics; an aggregated view of interpretations highlighting those in consensus, conflict or reviewed by expert panel; and detailed views of submitter data, including supporting evidence for the interpretation such as phenotype, assertion criteria and references.

#2: All for one and one for all

One of the most common uses of the ClinVar variant report outside of patient care is to compare and improve interpretations within and across contexts and organizations. Evaluation of classifications contributed to ClinVar can lead to reclassifications. The higher the evidence-led consensus within the community, the stronger the confidence for healthcare professions to apply the information in a patient-setting.

#3: Patient privacy protected

Clinical genetics labs, research labs, Locus specific databases, Clinical providers, Patient-specific registries, OMIM®, GeneReviews®, and expert panels submit to ClinVar without Personal Health Information (PHI) or Personally Identifiable Information (PII) breach concerns. The interpretations in ClinVar are at the variant level. If you provide case-level / patient-level observations of variants, we ensure that the data are aggregated. The data do not disclose any personal information, while still providing precious declassified information about context and nuance.

#4: Faster than ever

Waiting a long time for your data to appear on the free, publicly accessible site is a thing of the past. ClinVar recently overhauled our submission processing and data release pipelines to optimize our internal technical and operational protocols to release data faster without sacrificing the quality control that you rely on us for.

#5: Registering to submit to ClinVar is easy

Already submit to or have a login with an NCBI resource? Great! You can reuse your user login. Already have an organization registered in GTR? Well, go ahead and reuse that organization to submit to ClinVar. By following a few simple steps, you can be ready to submit your data.

#6: Participate in the way that works best for you

You can deposit variants in ClinVar using our submission wizard for small number of submissions, or one of these options for large number of submissions – excel file templates, tsv/csv file templates, xml, or an Application Programming Interface (API). You can change your method of submission at any time and participate as often as is prudent.

#7: Automated preliminary validation and detailed error reports

Our Submission Portal provides quick feedback to help you correct any potential issues. You can either resubmit your entire submission again or submit the records that did not have an error right away and re-submit the rest later. For errors or warnings, we send a detailed report at the record level for easy understanding and resolution. Our submitters love this feature!

#8 : New data released every week, and your latest data is highlighted to users

So you made a submission to ClinVar but now you’re wondering if it is worth it to provide updates. Worried that your newest and latest interpretations may not become apparent right away? ClinVar offers people the ability to follow variants of interest to them, so that when the clinical interpretation changes, they are notified and can investigate the change and its implications. This means that the changes you submit to ClinVar can have immediate and meaningful impact. So don’t wait another minute! Send us your updates and if it’s just a few, you can use the Submission Wizard.

#9: Download your past submissions

Once you are a veteran submitter, you may find that your data in ClinVar grow at a fast pace. We provide you with the ability to download a cumulative report that gives you a list of the latest data that you provided for each variant you’ve submitted. You can use this list to compare to data in your own system and to prepare your next submission.

#10: We anticipate and respond to your needs

We hear your concerns and ideas through surveys, user interviews, conferences, help desk email, and many more channels. We are always working on new enhancements to make submission more intuitive, easier, and faster for you. Some upcoming features that you can look forward to, including additions to automated validation for more quick feedback and enhanced documentation and self-help to make data preparation and submission easier. Keep the communication flowing and write to us.

Who can Submit?
Learn more about whether ClinVar is a good fit for you here.

  How to Submit?
We hope you have brought you along in your decision to engage with the ClinVar community. We would love to have you with us. Learn more about how to submit here.

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