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FDA Recognizes ClinGen Assertions in ClinVar - Frequently Asked Questions

FDA Recognizes ClinGen Assertions in ClinVar - Frequently Asked Questions

What is the Clinical Genome Resource (ClinGen) and why is this U.S. Food & Drug Administration (FDA) recognition important? 

ClinGen is a research initiative funded by National Institutes of Health (NIH) and managed by the National Human Genome Research Institute (NHGRI).  We are dedicated to identifying genes and variants of clinical relevance for use in precision medicine and research. The purpose of the FDA Variant Database Program is to support an easier path for marketing clearance or approval for clinical gene test developers. The ClinGen Variant Curation Expert Panel (VCEP) curated variants are a resource of human variants that have been interpreted for their potential association with disease. Test developers can use expert variant interpretations from ClinGen to support clinical validity.

How does this recognition validate the ClinGen approach? 

Composed of 700+ contributors, representing numerous aspects of human genomics and medical genetic stakeholder groups, ClinGen aims to standardize clinical annotation and interpretation of genes and genomic variation.

ClinGen has developed multiple teams of experts to optimize the standard approach to variant interpretation published by the ACMG for the disease in question using guidance from the ClinGen Sequence Variant Interpretation (SVI) Working Group.

Another key to the mission of ClinGen is transparent access to the evidence used by the VCEPs for the variants interpretation.

The FDA’s recognition of ClinGen as the first regulatory-grade human variant database underscores the importance of a consistent approach, collaboration and sharing of knowledge to improve healthcare.

What are the implications of the FDA’s approval of these databases? What does it mean for the work ClinGen is doing? Are there clinical applications or implications? 

Genomic testing is routinely used in clinical care, particularly for the diagnosis of inherited disorders. Scientifically valid methods for assessing the clinical significance of genes and DNA variants is critical for patients undergoing testing.

ClinGen VCEPs combine gene-specific clinical, research and laboratory expertise to achieve robustly, optimized classifications of genomic variation.

This expert knowledge, the approach to variant interpretation and the evidence evaluated is publicly disseminated to enable other clinicians and laboratory scientists full access with the aim of improving the quality of genomic medicine.

Will other databases be affected by FDA’s approval of ClinGen?

The designation recognizes not only the variant classifications but the robust methods, structured approach, internal training, and dedication to transparency as gold standards for the field.

We encourage any other databases or organizations planning to apply for FDA designation to use ClinGen as an example.

Other organizations can review the ClinGen FDA application

Where can users access this information?

FDA recognized variants can be found in NCBI's ClinVar database. Click here for a full list of variants that meet this label in ClinVar. This information can also be found in ClinGen's Evidence Repository.

What are the next steps for ClinGen? What other genes and diseases are being evaluated?

With recent approval of several ClinGen VCEPs in many different disease areas we are working hard to scale up our efforts and provide access to these interpretations in the public domain.

In addition, ClinGen is branching out into new gene and disease areas with several new Expert Panels underway. Visit to learn more.

How does ClinGen impact medicine today in the community?

ClinGen provides expert curated knowledge on genes and variants to aid the community in creating tests and interpreting results for patients.

What resources are available for people who want to learn more about ClinGen?

Learn more about ClinGen here and see our recent special issue of Human Mutation with 25 papers

Date February 1, 2019
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