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.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ClinVar Submission should match this regular expression:

Example Local Unique Identifier
SCV000151292   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Submission should match this regular expression:

Example CURIE
Metaregistry ClinVar Submission

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for clinvar.submission with 1 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext CLINVAR.SUBMISSION logo miriam clinvar.submission
N2T Name-to-Thing logo n2t clinvar.submission

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar.submission:SCV000151292 is used to demonstrate the provides available for clinvar.submission. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ClinVar Submission clinvar.submission
Bioregistry bioregistry miriam
Name-to-Thing n2t