ClinVar

• NCBI (National Center for Biotechnology Information)

ClinVar is a freely available archive describing relationships between medically important variants and phenotypes. Submissions report human variation, interpretations of the relationship of that variation to human health, and the evidence supporting each interpretation. ClinVar is tightly coupled with dbSNP and dbVar, which maintain information about locations of variations on human assemblies, and also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each record contains the submitter, the variation and the phenotype. Furthermore, to facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets.