Repository details

ClinVar

Name of repository
ClinVar
Repository URL
https://www.ncbi.nlm.nih.gov/clinvar/
Subject(s)
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(s)
  • clinvar@ncbi.nlm.nih.gov
Keyword(s)
Persistent identifier(s) of the repository
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
  • dataProvider

Institutions (1)

Institution
National Center for Biotechnology Information
Additional name(s)
  • NCBI
Institution
Country
United States
Type(s) of responsibility
  • general
  • technical
Type of institution
non-profit

Policies (2)

Policy Name
Accessing and using data in ClinVar
Policy Name
Overview

Database access

Type of access to research data repository
open

Data access (1)

Type of access to data
open

Data licenses (3)

DataLicense
Copyrights
DataLicense
Copyrights
DataLicense
Public Domain

Data upload (1)

Type of data upload
restricted
Data upload restriction type(s)
  • other

Data upload license (1)

Data upload license name
Submission to ClinVar
Persistent identifier system(s)
  • none
Versioning
yes
Data citation guideline
https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/
Enhanced Publication
unknown
Quality management
unknown

Application programming interfaces (2)

Type
FTP
Url
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/
Type
other
Url
https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/#api

Remarks

Remarks
Sources of data in ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/docs/datasources/ Guide to using files from the ftp site or accessed via e-utilities: https://www.ncbi.nlm.nih.gov/clinvar/docs/ftp_primer/
Entry date
2020-05-07
Last update
2024-04-10
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Cite this re3data.org record:

re3data.org: ClinVar; editing status 2024-04-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R31NJMS3 last accessed: 2025-04-26