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ClinVar collects and displays data on genetic variants and their effects on human health. Users can search, submit, and explore data from various sources and submitters, but should not use it for direct diagnosis or medical decisions.
- What is Clinvar
ClinVar is a freely accessible, public archive of reports of...
- Linking to ClinVar
ClinVar archives and aggregates information about...
- Comparing The Variation and Record Displays
The RCV-based record report continues to serve as the...
- Names
GTR and ClinVar share the database infrastructure for...
- Data Authorities
Authorities used in ClinVar. A major function of ClinVar is...
- Access
Data from ClinVar can be retrieved programmatically via...
- Hgvs Expressions
ClinVar does not report all HGVS expressions for each...
- Clinical Significance
ClinVar calculates an aggregate classification for each of...
- What is Clinvar
ClinVar collects and displays data on genetic variants and their effects on human health. Users can search, submit, and explore data from various sources and submitters.
- Represents Medical Phenotypes
- Represents Variations
- Represents The Relationships Among Phenotypes and Variations
- Submission Information
- Represents Evidence For Variations and Assertions
- Integrates Data from Multiple Sources
- Representative Use Cases
- Data Sharing
- Implementation
- We Invite Your Feedback.
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ClinVar aggregates the names of medical conditions with a genetic basis from such sources as SNOMED CT, GeneReviews, Genetic Home Reference, Office of Rare Diseases, MeSH, and OMIM®. ClinVar also aggregates descriptions of associated traits from Human Phenotype Ontology (HPO), OMIM, and other sources. Each source of information is tracked, and can ...
Human variations are reported to the user as sequence changes relative to an mRNA, genomic and protein reference sequence (if appropriate), according to the HGVS standard. The defaults are as ‘c.’ and any protein sequence change. Genomic sequences are represented in RefSeqGene/LRG coordinates, as well as locations on chromosomes (as versioned acces...
ClinVar is designed to support the evolution of our understanding of the relationship between genotypes and medically important phenotypes. By aggregating information about variations observed in individuals with or without a phenotype, ClinVar supports establishment of the clinical validity of human variation. A ClinVar record contains the followi...
Submitter descriptionDates submitted and updatedData added by NCBI computationWhere submitted, evidence supporting the occurrence of a variation and the asserted association of a phenotype with a variation is archived for user review, to allow in-depth review of evidence by users and expert panels. In silicopredictions of protein variation consequence using various algorithms may be calculated and reported.
The information aggregated in ClinVar is reported in the viewer in the most accessible presentation possible. Linking within ClinVar and links out are minimized where possible to sure that the greatest amount of information is visible with the fewest possible number of uninformative reference numbers.
Location search
Clinicians, researchers, and other users search a DNA or protein location for what is known about the clinical significance of a sequence variation at the location.
Review evidence about a variation
Clinicians and researchers review the evidence for/against a phenotype asserted to be associated with a variant, allowing determination or reassessment of a variant’s pathogenicity. Any conflict or uncertainty is reported explicitly. ClinVar does not compute conclusions, but only report conclusions from external data submitters.
Curation of assertions regarding a variation
Experts review the evidence to assign appropriate levels of confidence to the assertions made in regard to a variant or sets of variants and submit expert-reviewed records.
The information archived in ClinVar is freely available to users and organizations to ensure the broadest utility to the medical genetics community. To that end, we work with submitters and other archives to ensure that data structures are designed to facilitate data exchange so that data can be shared in both directions with willing organizations....
A preliminary view of ClinVar was launched in 2012, with the first full public release in April 2013. The initial dataset included variations from OMIM, GeneReviews, some locus-specific databases (LSDB), contributing testing laboratories, and others. ClinVar is an active participant in the ClinGen project, leading to improved content and representa...
ClinVar adapts to meet the needs of the genetics community; we invite comments and responses to help make this resource as effective a tool as possible for all our user communities. Email us at clinvar@ncbi.nlm.nih.gov.
ClinVar is a freely accessible database that collects and displays reports of human variations and their associations with diseases and drug responses. Users can submit, view, and download data, and access supporting evidence and expert reviews.
Jan 26, 2024 · Learn how to use the ClinVar database to find human variants and conditions, with terms like gene symbols, chromosome coordinates, HGVS expressions, rs numbers, diseases, and more. See examples, query strategies, data standards, and web display features.
Clinvar's Field NameAbbreviationScope And ExplanationAllele ID[alleleid]The ClinVar identifier for an individual ...Base position[chrpos] [cpos] [cposition] [chrpos38]The chromosome base position, based on ...Base position for assembly GRCh37[chrpos37] [C37] [C37POSITION]The chromosome base position on ...Canonical SPDI[cspdi] [CSPDI] [Canonical SPDI]The canonical SPDI notation for the ...Aug 30, 2022 · ClinVar is a public archive of human variation and phenotype relationships. Learn how to use the experimental graphical display to map variants by gene and position, filter by clinical significance, and zoom in or out.
ClinVar is a public archive of human variation and phenotype data hosted by NCBI and funded by NIH. ClinGen supports data deposition and curation in ClinVar to improve knowledge of clinically relevant genomic variation.
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Learn how to search ClinVar for disease-causing genetic variants using gene symbols, diseases, HGVS expressions, and more. See examples of how to interpret the variant details, conditions, and clinical significance in ClinVar records.
