FDA Recognized Human Variant Database

In April 2018, the FDA announced the initiation of a Public Human Genetic Variant Database program to support the agency’s precision medicine initiatives. A primary aim of the program is to foster innovation among test developers and advances in patient care through access to valid sources of accurate human variant interpretation data.  

  • Data and assertions within the database are considered to be valid scientific evidence that can be used to streamline the test development and validation processes.  

Another aim of the FDA program is to incentivize human variant data-sharing. The program recognizes the importance of transparency and peer-review for accurate human variant interpretation and pathogenicity classification.  

  • All data is expected to be publicly accessible including the variant curation and interpretation processes as well as the curated evidence to support the final variant classifications. 

ClinGen Expert Curated Human Genetic Data

In December 2018, ClinGen became the first entity to be recognized by the FDA.  Although at the time only a limited number of Variant Curation Expert Panels were reviewed as part of the program application, the FDA recognition encompasses future variant data that aligns with the original scope. 

 

Scope of ClinGen Recognition

  • Germline variants in hereditary disease with a high likelihood the condition will manifest.

  • Human variants that have been curated, assessed and classified through a ClinGen approved Variant Curation Expert Panel following the standard protocol.

 

Important Database Links

ClinGen Variant Curation Expert Panel (VCEP) Protocol – The validated process as reviewed by the FDA is version controlled. 

Evidence Repository – ClinGen's publicly accessible interface for finalized variant classifications and their supporting evidence.

ClinVar – The NCBI maintained archive for human variant assertions. All variant records that fall under the FDA Human Variant Database program are labeled as such.  For a full list of FDA Recognized variants in ClinVar click here.

FAQ about the FDA Recognition

 

ClinGen Application Links

FDA Recognition Letter

FDA Decision Summary for ClinGen Expert Curated Human Variant Data

Original Application

Supplemental Application