clinvar

is a Data Source.

ClinVar is a freely accessible, public archive of reports of human genetic variations and their relationships to human health. It collects and presents data on variants found in patient samples, classifications for diseases and drug responses, and supporting evidence. ClinVar enables access to and communication about the clinical significance of genetic variants, providing healthcare professionals, researchers, and the public with vital information for interpreting genetic test results.

Domains

biomedical, genomics, clinical, precision medicine, health, translational

License

NCBI and NLM Data Usage Policies and Disclaimers

Homepage

clinvar

Repository

Unknown

Infores ID

infores:clinvar

FAIRsharing ID

Unknown

Product Summary

Products

From this Resource
ID Name URL Category Format Description
clinvar.xml ClinVar XML xml Product xml Complete public data set in XML forma...
clinvar.vcf.grch37 ClinVar VCF (GRCh37) vcf_GRCh37 Product vcf ClinVar data in VCF format for GRCh37...
clinvar.vcf.grch38 ClinVar VCF (GRCh38) vcf_GRCh38 Product vcf ClinVar data in VCF format for GRCh38...
clinvar.tab ClinVar Tab-Delimited Files tab_delimited Product tsv Tab-delimited files summarizing varia...
clinvar.api ClinVar API (E-utilities) maintenance_use ProgrammingInterface http API access to ClinVar data through NC...
clinvar.web ClinVar Web Interface clinvar GraphicalInterface http Web interface for searching and brows...
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Details

ClinVar

ClinVar is a freely accessible, public archive maintained by the National Center for Biotechnology Information (NCBI) that catalogs the relationships between human genetic variations and phenotypes, with supporting evidence. It serves as a critical resource for the clinical genetics community by providing a centralized repository of variant interpretations and their clinical significance.

Overview

ClinVar collects, curates, and distributes information about:

  • Human genomic variations (from single nucleotide variants to large structural variants)
  • Clinical significance classifications (pathogenic, likely pathogenic, uncertain significance, likely benign, benign)
  • Supporting evidence for classifications
  • Relationships between variants and diseases or drug responses
  • Submitter information and review status

The database integrates submissions from clinical testing laboratories, research groups, expert panels, and professional societies, making it a comprehensive resource for variant interpretation in clinical settings.

Content

ClinVar contains data on variants across the entire human genome, including:

  • Variant classifications: Clinical significance determinations from submitters
  • Variant details: HGVS expressions, genomic locations, allele identifiers
  • Condition information: Medical conditions associated with variants, mapped to MedGen
  • Evidence details: Supporting evidence for classifications, including case data, functional studies, and population frequencies
  • Submitter information: Source of variant classifications and contact details
  • Review status: Level of expert review for each classification, from no assertion criteria to practice guideline
  • Version history: Previous versions of submitted records and changes over time

ClinVar accepts submissions for variants identified through various methods, including clinical testing, research, and literature curation. It does not include GWAS data or variants observed but not classified.

Data Access

ClinVar data is available through multiple channels:

  1. Web Interface: Interactive search and browsing, with detailed variant pages
  2. API Access: Programmatic access via NCBI’s E-utilities for integration into bioinformatics workflows
  3. Data Downloads: Full and partial data dumps in multiple formats:
    • XML files containing the complete dataset
    • VCF files for GRCh37 and GRCh38 assemblies
    • Tab-delimited summary files of variants, gene-disease relationships, and more

The data is updated weekly on the website, with comprehensive monthly releases available for download on the first Thursday of each month.

Integration and Collaboration

ClinVar works closely with the ClinGen project and other initiatives to improve the quality and interpretation of genomic variants. It provides data exchange mechanisms with numerous resources, including:

  • NCBI resources (Gene, MedGen, dbSNP, dbVar)
  • External databases (OMIM, GTR, Variation Viewer)
  • Professional organization guidelines and expert panel evaluations

As a vital component of the clinical genomics ecosystem, ClinVar continuously evolves to meet the needs of the genetics community and support the implementation of precision medicine.

Is this information incorrect or incomplete? Request an update.

Created: June 04, 2025 | Last modified: February 20, 2026