Identifying genetic variants and their impact on health is key to tailoring patient care. However, most variants are rare! As such, it is imperative for health care professionals to compare findings from multiple labs, examine evidence, and read related publications to provide accurate interpretations of genetic testing results as well as to develop treatment plans for their patients. ClinVar, a free and publicly available database, was established 10 years ago with this fundamental need in mind.
10 years of ClinVar
The field of variant discovery and classification for diseases has increased rapidly in the last decade!
- In its initial release in April 2013, ClinVar held 27K variants.
- As of April 2023, ClinVar offers:
- 2M+ variants
- 2K+ submitters
- 80+ countries across the globe
ClinVar has evolved to not only include more variants, but to make it easier and faster to find and evaluate variant classifications from multiple sources.
Clinicians use ClinVar to provide better, faster patient care!
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
More benefits of ClinVar
Sharing data in ClinVar makes it easier to:
- Evaluate the connection between variants and health conditions
- Understand the concordance or discordance of classifications from different groups
- Classify and reclassify variants
- Come to a consensus within the research and medical community
- Best practices for the interpretation and reporting of clinical whole genome sequencing
- Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
ClinVar is widely used in clinical genetics research to:
- Identify genes or diseases that should be prioritized for study
- Find control or training sets of data
- Make variant data available as a structured format in a public database, which is often required by journals for publication
- Search-and-replace genome editing without double-strand breaks or donor DNA
- Massively parallel assessment of human variants with base editor screens
- A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
- Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
Thank you to ClinVar’s expert panels and other long-term submitters for being committed to sharing their latest data and to continually improving data availability and clinical genetics. We appreciate your contribution and dedication to ClinVar.
We celebrate this 10-year anniversary, grateful for the overwhelming community support, but knowing that the work is not done!
We want to hear from you
How has ClinVar helped you in the past? How can ClinVar help you in the future? Please write to us at email@example.com and share your feedback.