ClinVar

ClinVar is an online database that provides a comprehensive and freely available archive of reports of relationships among medically important variants and phenotypes. It is an initiative of the National Center for Biotechnology Information (NCBI), a division of the National Institutes of Health (NIH) in the United States. ClinVar is a valuable resource for the bioinformatics community, as it contains a wealth of information on human variation and its relationship to human health.

ClinVar is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. This means that ClinVar can provide detailed and accurate information on the genomic location of each variation. ClinVar is also based on the phenotypic descriptions maintained in MedGen, another NCBI database. This allows ClinVar to provide comprehensive information on the phenotypic consequences of each variation.

Each ClinVar record represents the submitter, the variation, and the phenotype, i.e., the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, and in such cases, a new version is assigned. This allows ClinVar to stay up-to-date with the latest research and findings in the field of human genetics.

To facilitate the evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0, and reports if there are conflicting clinical interpretations. This means that ClinVar can provide a comprehensive and accurate interpretation of the medical importance of each variant.