ClinVar

Name of repository

ClinVar

Repository URL

https://www.ncbi.nlm.nih.gov/clinvar/

Subject(s)

• General Genetics
• Anatomy
• Basic Biological and Medical Research
• Biology
• Life Sciences

Description

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible

Contact

• clinvar@ncbi.nlm.nih.gov

Content type(s)

• Standard office documents

Keyword(s)

• disease
• gene
• genotype
• phenotype
• sequence variation

Persistent identifier(s) of the repository

• FAIRsharing_doi:10.25504/FAIRsharing.wx5r6f
• RRID:SCR_006169
• RRID:nlx_151671

Repository size

2.815.823 Unique variation records; 92.215 genes represented

Repository type(s)

• disciplinary

Mission statement for designated community

https://www.ncbi.nlm.nih.gov/clinvar/intro/

Research data repository language(s)

• English

Data and/or service provider

• data provider