Resultado da Busca
ClinVar collects and displays data on genetic variants and their effects on human health. Users can access, submit, and explore data from various sources, such as ACMG, ClinGen, OMIM, and GTR.
- Variation Viewer
Explore genetic variations and their clinical significance....
- Submission to ClinVar
ClinVar assumes you have obtained appropriate consent to...
- What is ClinVar
ClinVar is designed to support our evolving understanding of...
- Comparing The Variation and Record Displays
In the record report, information about the gene is listed...
- HGVS Expressions
ClinVar does not report all HGVS expressions for each...
- Data Authorities
Authorities used in ClinVar. A major function of ClinVar is...
- Variation Viewer
ClinVar collects and displays data on genetic variants and their effects on human health. Users can access, submit, and explore data from various sources, such as gene reviews, OMIM, and GTR.
- Represents Medical Phenotypes
- Represents Variations
- Represents The Relationships Between Variants and Conditions
- Submission Information
- Represents Evidence For Variations and Assertions
- Representative Use Cases
- Data Sharing
- History
- We Invite Your Feedback.
ClinVar maps submitted conditions to MedGen, which aggregates the names of medical conditions with a genetic basis from such sources as UMLS, GeneReviews®, MeSH, Mondo, and OMIM®. MedGen also phenotypes, or clinical features, from Human Phenotype Ontology (HPO), OMIM®, and other sources.
Human variations are reported 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 accessions and pe...
ClinVar is designed to support our evolving understanding of the relationship between variants and diseases or drug responses. By aggregating information about variant classifications, ClinVar supports establishment of the clinical validity of human variation. A ClinVar record contains the following elements:
Submitter nameDates first submitted and updatedData added by NCBI computation, e.g. SCV accessionWhere submitted, evidence supporting the classification of a variant is archived, to allow in-depth review of evidence by users and expert panels.
Location search
Clinicians, researchers, and other users search a DNA or protein location to see how variants at that location were classified.
Review evidence about a variation
Clinicians and researchers review the evidence for/against a disease 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 reports conclusions from external data submitters.
Curation of assertions for 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 represen...
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.
26 de jan. de 2024 · The primary web display in ClinVar is a variation-centric page that aggregates information submitted for a variation for all of the reported conditions (the accession starting with VCV), along with details for each submission about the variation (the accession starting with SCV).
Aprenda o que é o ClinVar, uma ferramenta que cataloga as relações entre as variantes genéticas e seu impacto na saúde. Veja como acessar, pesquisar e interpretar os dados do seu genoma com o ClinVar.
4 de jan. de 2018 · ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report.
14 de jul. de 2021 · Simple ClinVar is a web application that provides gene- and disease-wise summary statistics based on all available genetic variants from ClinVar, a public database of human genetic variation and disease. Users can query by keyword, gene name or disease term and see variant mapping, visualization and filtering options.
![How to use ClinVar - A Tutorial for Beginners [JULY 2020]](https://br.images.search.yahoo.com/search/images?p=clinvar&ei=UTF-8&th=99.1&tw=330.9&imgurl=https%3A%2F%2Fnebula.org%2Fblog%2Fwp-content%2Fuploads%2F2020%2F05%2F0_WGr5RsEP9bY3tRXy.jpg&rurl=https%3A%2F%2Fnebula.org%2Fblog%2Fclinvar-tutorial%2F&size=16KB&name=How+to+use+ClinVar+-+A+Tutorial+for+Beginners+%5BJULY+2020%5D&oid=1&h=178&w=591&turl=https%3A%2F%2Ftse1.mm.bing.net%2Fth%3Fid%3DOIP.15VPG6UFMksNucUSrDKh_QHaCO%26pid%3DApi%26rs%3D1%26c%3D1%26qlt%3D95%26w%3D330%26h%3D99&tt=How+to+use+ClinVar+-+A+Tutorial+for+Beginners+%5BJULY+2020%5D&sigr=KdVeGmuh3g3n&sigit=5AMZ8UkdMhb5&sigi=OLEblsIR4Aug&sign=pkZj1sopV.Ye&sigt=pkZj1sopV.Ye "How to use ClinVar - A Tutorial for Beginners [JULY 2020]")
![How to use ClinVar - A Tutorial for Beginners [JULY 2020]](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7 "How to use ClinVar - A Tutorial for Beginners [JULY 2020]")
