Submission Overview
Are you new to ClinVar submission? Read about the benefits of submitting to ClinVar and an overview of how submission works.
- What are the benefits of submitting data to ClinVar?
- Can I submit to ClinVar?
- What kind of data is in a submission?
- Do I need consent to submit?
- How do I get started?
What are the benefits of submitting data to ClinVar?
Provide broad access
ClinVar is a freely available database that is updated weekly. Submitting data to ClinVar makes it available to the worldwide clinical genetics ecosystem, so that laboratories and clinicians have up-to-date variant classifications from many sources.
Compare classifications
Collecting classifications from different organizations in ClinVar allows comparison, so that it's clear when laboratories agree or disagree on the clinical significance of a variant. This comparison helps laboratories and expert panels know where extra effort is needed to resolve conflicting classifications.
Pool the evidence
Variant classification is a complex process, requiring the collection of different types of data generated by different organizations within the clinical genetics ecosystem. It can be difficult for any one organization to collect all the data necessary to classify every variant, including clinical phenotypes and functional data. ClinVar provides a central repository to pool evidence generated by many different sources.
Aid re-classification
Collecting classifications from many different sources in ClinVar makes it easier for a submitting lab to know when another lab has classified a variant differently, potentially prompting re-classification. You can follow your submitted variants in ClinVar, so that you are notified when the aggregate classification in ClinVar changes.
Standardize data
Submission to ClinVar requires submitters to standardize individual data types like variant descriptions and terms for classification, and it encourages standardization of other data types like diseases. Additionally, all submitters convert their data to ClinVar's standard format for the assertion of pathogenicity and supporting evidence, promoting interoperability and re-use of the data within the clinical genetics ecosystem.
Can I submit to ClinVar?
ClinVar welcomes submissions from:
- clinical testing labs
- research labs
- genetics clinics
- patient registries
- locus-specific databases
- expert panels
- groups establishing practice guidelines
ClinVar does not accept submissions directly from patients or patient family members.
- We encourage patients to ask their genetic testing laboratory or clinician to submit the relevant data to ClinVar.
- Patients may also consider sharing their genetic testing results with a patient registry that submits deidentified data to ClinVar, like GenomeConnect.
What kind of data is in a submission?
Each submission to ClinVar is a classification of a variant for a condition, and information about how the submitter observed the variant.
- Classifications are variant-level, not patient-specific.
- Patient-specific data may be provided as an observation of the variant, but the data must be de-identified.
- Read more details about gathering the data needed for submission.
Do I need consent to submit?
ClinVar assumes you have obtained appropriate consent to submit the data. Once the data are in ClinVar, they are available for unrestricted distribution.
The following resources may be useful:
- Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
- ClinGen: Clinical Broad Data Sharing Consent Resources
How do I get started?
Read more specific instructions on how to get started with submission to ClinVar, and contact us at clinvar@ncbi.nlm.nih.gov with any questions.