ClinVar is a free, public archive of genetic variation and phenotypic association data for use by the clinical community and biomedical researchers. ClinVar aggregates information about genomic variation and its relationship to human health from many different sources. This information is submitted voluntarily by submitters, who may be professional researchers or members of the general public.
The primary goal of ClinVar is to improve patient care by providing clinicians and researchers with a centralized resource that can be used to determine the pathogenic potential of variants and guide diagnostic decision-making. In addition, ClinVar can be used to support research studies aimed at identifying the molecular basis of disease and developing new therapeutic strategies.
Variants in ClinVar are classified according to their likely effect on protein function: pathogenic (likely to cause disease), likely pathogenic, uncertain significance, likely benign, or benign. Pathogenicity determinations are made based on multiple criteria, including frequency in the population, evidence from basic biochemical or biophysical studies, co-segregation with disease in families, and results from animal models.
In order to make accurate pathogenicity determinations, it is important to have high-quality data for each variant. To this end, ClinVar requires submitters to provide detailed information about their data sources (e.g., sequencing platform used) as well as their methods for analyzing and interpreting the data. In addition, submitters are encouraged to include links to publications describing the variant in detail.
Submissions to ClinVar are reviewed by curators before being made publicly available; curators check submissions for completeness and accuracy using established guidelines (https://www.ncbi.nlm.nih