We need your input!
ClinVar is NCBI’s archive of reports of the relationships among human genetic variations and diseases, with supporting evidence. To make ClinVar data more accurate and useful, we are introducing an enhanced data model to better accept and support classifications of somatic variants.
How you can help
Do you have somatic variant classifications to submit to ClinVar? We want to hear from you! We are now testing ClinVar’s enhanced data model and support for classifications of somatic variants.
We encourage submitters to provide your somatic data on our new and improved submission template as a test. We want to ensure you can easily provide your somatic variant data to ClinVar and that we are presenting the data in the most useful format.
We want to create real submissions with real data using our enhanced templates. During this test period, we want to continuously improve our support for somatic variation data. As always, your data will not be made public without your explicit permission. For any data that is meant to eventually go public, we will do so when the feature is released. We will provide new users and somatic submitters to ClinVar with extra support to ensure a meaningful experience.
We also encourage interested ClinVar users and experts in somatic variants to get in touch with us to review proposals for our XML outputs and variant webpages with us to improve the data model and presentation (see Figure 1 for an example) for somatic variants.
Figure 1: Sample of future enhancements–Variant Summary section with Somatic Classifications added.
This test period will continue from now through March 2023. Please write to us so we can engage with you throughout this test.
In the next few months, ClinVar will release its somatic submission, data model, displays, and download formats to the public.
- Our initial release will support submission of somatic classifications in file submissions, updated web displays, and download formats.
- We will then expand to support somatic classifications in wizard submissions that are either individual new submissions or updates to prior submitted records.
- Finally, we will add API support for somatic data submissions.
If you have questions or would like to provide us feedback, please contact us!