ClinVar: improving access to variant interpretations and supporting evidence

ClinVar is a freely available public archive maintained at the National Institutes of Health that collects human genetic variants and interpretations of their clinical significance to disease. Interpretations are submitted by clinical testing laboratories, research laboratories, expert panels, and other groups, and ClinVar aggregates the data both by variant-disease pairs and by variant or set of variants. Aggregated data are made accessible through the website, an improved set of variant call format files, and a new comprehensive XML report.

This update expanded ClinVar to accept submissions focused primarily on phenotypic information for individuals who have undergone genetic testing, including provider interpretations of variants and phenotyping-only submissions from groups such as patient registries. The resource also continued improving its search and retrieval functions by indexing several new fields for more precise searching and adding filters that let users narrow large sets of search results, strengthening access to variant interpretations and their supporting evidence for the clinical genetics community.