Welcome to ClinGen ClinGen is defining the clinical relevance of genes and variants Founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 2,700 contributors from more than 72 countries
ClinGen The ClinGen gene curation process combines an appraisal of genetic and experimental data in the scientific literature with expert review to classify gene-disease pairs into 1 of 6 categories according to ClinGen's Gene-Disease Clinical Validity Classification framework
Sequence Variant Interpretation - ClinGen - Clinical Genome The ClinGen Criteria Specification(CSpec) Registry is a centralized database designed for the management and maintenance of Criteria Specifications of ACMG evidence codes for variant pathogenicity classification defined by the ClinGen Variant Curation Expert Panels
Tools - ClinGen | Clinical Genome Resource ClinGen's Gene-Disease Clinical Validity tools support evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease The interface is currently restricted to Gene Curation curators
Get Started With ClinGen - Clinical Genome The Clinical Genome Resource, or ClinGen, is a National Institutes of Health funded initiative to increase the community’s knowledge about the relationship between genes and health We are dedicated to building a knowledge base that defines the clinical relevance of genes and variants for use in precision medicine and research
About Us - ClinGen | Clinical Genome Resource ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research
Variant Pathogenicity - ClinGen | Clinical Genome Resource Variants curated by ClinGen Variant Curation Expert Panels have been recognized by the FDA as a source of valid scientific evidence that can support clinical validity Click here to learn more about the FDA's recognition of ClinGen as a public human genetic variant database
About ClinGen Expert Panels - Clinical Genome One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants
Documents Announcements - ClinGen | Clinical Genome Resource Patient Data Sharing - August 14, 2023 -ClinGen's GenomeConnect is working to better understand the relationship between genetics and health to improve patient care and research This effort relies on gathering more information through data sharing