Data collection: ClinVar Submission

General information

Recommended name ClinVar Submission
Description ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references submissions, and is based on SCV accession.
Identifier pattern^SCV\d+(\.\d+)?$
Registry identifierMIR:00000595

Identification schemes

Namespace clinvar.submission
Alternative URI schemes  
Deprecated URI scheme(s)   Display/Hide deprecated URI scheme(s)

Physical locations (resources)

Description ClinVar Submission at NCBI
Access URLs HTML   (using the example identifier: SCV000151292)
Institution National Center for Biotechnology Information (NCBI), NIH, Maryland, USA