ClinVar: for medical practitioners and researchers alike
ClinVar is a public archive of interpretations of clinical significance and functional effects of variants in any gene and for any disease. Interpretations are submitted by many sources, including research laboratories, clinical testing laboratories, locus-specific databases, expert panels, practice guidelines, as well as OMIM® and GeneReviews™. Thus the database aggregates interpretations and evidence from both clinical and research settings to aid evaluation of the clinical significance of a variant. Currently ClinVar holds more than 10800 variant interpretations submitted as research results from 241 organizations. A submission may be held private until the corresponding paper is published; submitters are encouraged to start their submission to ClinVar before they start the publication process, to allow time for NCBI staff to process the data. ClinVar accessions for submissions can be provided before the data is fully processed so that the manuscript can reference the ClinVar record. The PubMed ID for the submitter’s paper may be included with the original submission to ClinVar or added later in an update. Submissions of a single variant interpretation are welcome, and an online submission wizard guides you through the process. A research submission may report the clinical significance of the variant, if patients were evaluated as part of clinical research. Alternatively, the functional significance of the variant may be provided if the submitter describes experimental results, such as a functional assay or an animal model. Submitters are encouraged to send updates to ClinVar when further research indicates that their classification should be changed or provides additional evidence. ClinVar also has 178880 variant interpretations from 225 clinical testing laboratories. ClinVar can be used to inform research in both the academic and clinical research arenas. The full dataset is available as XML for download; summary data is available as a VCF file and tab-delimited summary files. ClinVar data may be accessed programmatically with E-utils, NCBI’s API for data retrieval. The data may also be viewed on the ClinVar website. The database may be searched by variant, gene symbol, disease or phenotype, PubMed ID, submitter, and more. Search results may be filtered in several ways, including allele origin, type of submission, variant type, functional consequence, and clinical significance. A summary of search results may also be downloaded. Each search result links to a variation page for the variant or set of variants that were interpreted. The variation page includes the aggregate clinical significance and review status based on all submissions. Details from each submission are also displayed, including each submitter, each submitted interpretation, criteria used to evaluate the variant, citations, and evidence for the interpretation.