Search results
ClinVar archives and aggregates information about relationships among variation and human health.
ClinVar aggregates information about genomic variation and its relationship to human health. Using ClinVar. About ClinVar. Data Dictionary. Downloads/FTP site. FAQ. Contact Us. Subscribe to the ClinVar mailing list. Tools. ACMG Recommendations for Reporting of Secondary Findings. ClinVar Submission Portal. Submissions. Variation Viewer.
Jan 25, 2024 · ClinVar is a freely accessible, public archive of reports of human variations classified for diseases and drug responses, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed conditions, and the history of those assertions.
Jan 26, 2024 · Just type your search term and click on the Search button to the right of the search box. ClinVar can be searched with terms like: gene symbols, e.g. PTEN. gene symbol and c. or p., e.g., mutyh c.1187g>a. location / chromosome coordinates, e.g., chr1:11,102,837-11,267,747, 2:144,213,941 - 144,690,824, etc.
NCBI ClinVar. The NCBI ClinVar database collects reports from scientists on human genetic variants and their relationships to disease. Its purpose is to bridge genetic variation data and observations or assertions about phenotypes that are related to those variations.
ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline and somatic variants of any size, type or genomic location.
Apr 3, 2023 · 10 years of ClinVar. The field of variant discovery and classification for diseases has increased rapidly in the last decade! In its initial release in April 2013, ClinVar held 27K variants. As of April 2023, ClinVar offers: 2M+ variants. 2K+ submitters. 80+ countries across the globe.
Aug 30, 2022 · Maps clinically significant variants by gene and position! ClinVar is a freely accessible, public archive of reports of the relationships between human variations and phenotypes, with supporting evidence at NLM/NCBI.
Jan 26, 2024 · ClinVar is an archive for classification made by our submitters. Submitters may disagree on how a variant should be classified; read more about how ClinVar calculates consensus and conflicts in different types of classifications. ClinVar does not arbitrate and resolve these conflicts.
Mar 20, 2023 · ClinVar Submission Portal. ClinVar Submission Portal is the gateway to submit data to ClinVar at NCBI. In Submission Portal, you can: Log in or create an account; Register your organization. Determine if your organization is registered already; Register a new organization; Update an existing organization or personnel
