ClinVar is a freely accessible, public archive hosted by the National Center for Biotechnology Information (NCBI) and funded by intramural National Institutes of Health (NIH) funding. 

While clinical and research laboratories make up the majority of ClinVar submitters, we encourage clinicians to share their own variant interpretations and supporting phenotype data. Two ClinVar submission use cases for clinicians are described below. 

Questions? Contact us at clingen@clinicalgenome.org.


Reinterpretation

Clinicians may receive a variant interpretation from a testing laboratory but wish to share their own interpretation with ClinVar based on an independent assessment of the variant and supporting evidence.  

Follow the ClinVar submission instrucitons with the following considerations:

  • Use the "Testing laboratory" field on the Variant tab to report the laboratoy that identified the variant.
  • Add a note to the "Comment on clinical significance" field on the Variant tab, for example "Note: This variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other submitters. The interpretation is that of [Submitter name]” in addition to the rationale for the clinical significance assertion.

Please note, it is the responsibility of the submitter to determine if consent is needed for any data you are submitting.


Phenotype Only

Clinicians may receive a variant interpretation from a testing laboratory and have additional supporting evidence to share with ClinVar, such as the phenotypic description of an individual with the variant.

Follow the ClinVar submission instructions with the following considerations:

  • Use the "Testing laboratory" field on the Variant tab to report the laboratoy that identified the variant.
  • Make a note in the "Comment on clinical significance" field on the Variant tab, for example "Note: This variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other submitters. The clinical significance assertion is reported as it appears on the report from the testing laboratory. [Submitter name] makes no attempt to reinterpret the clinical significance of the variant."

Please note, it is the responsibility of the submitter to determine if consent is needed for any data you are submitting.