Vocab. ClinVar - OHDSI/Vocabulary-v5.0 GitHub Wiki

Except from About ClinVar

ClinVar is a freely accessible, public archive of reports of human variations classified for diseases and drug responses, with supporting evidence.

ClinVar is an active partner of the ClinGen project, providing data for evaluation and archiving variant classifications by recognized expert panels and providers of practice guidelines. ClinVar archives and versions submissions which means that when submitters update their records, the previous version is retained for review. Read more about submitting data to ClinVar.

The level of confidence in the accuracy of variation calls and classifications depends in large part on the supporting evidence, so this information, when available, is collected and visible to users. Because the availability of supporting evidence may vary, particularly in regard to retrospective data aggregated from published literature, the archive accepts submissions from multiple groups, and aggregates related information, to reflect transparently both consensus and conflicting assertions of clinical significance. A review status is also assigned to any record, to support communication about the trustworthiness of any classification. Domain experts are encouraged to apply for recognition as an expert panel.

An accession nunber, with the format SCV000000000.0, is assigned to each submitted record. If there are multiple submitted records about the same variation/condition pair, they are aggregated within ClinVar's data flow and reported as a reference accession with the format RCV000000000.0. Because of this model, one variant will be included in multiple RCV accessions whenever different conditions are reported for that variant. Submitted records for the same variation are also aggregated and reported as an accession with the format VCV000000000.0. This aggregation lets a user review all submitted data for a variant, regardless of the condition for which it was classified.