“ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM , GeneReviews, UniProt, expert panels and practice guidelines.”
Excerpted from paper at doi: 10.1093/nar/gkv1222.
- Version: Aug 3, 2017 Data Release
- See Release Notes
- Total size: 100 GB
How to Cite
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes hosted by the National Center for Biotechnology Information (NCBI) and funded by intramural National Institutes of Health (NIH) funding.
The data used for the analyses described in this manuscript were obtained from the ClinVar FTP server and staged to dedicated shared storage at UAB in order to better facilitate researcher access to important public data. These locally hosted data are documented and supported by the Informatics Institute‘s U-BRITE team and infrastructure.