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  • 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
    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 One of the key goals of ClinGen is to implement an evidence-based consensus for curating genes and variants
  • 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
  • Dosage Sensitivity - ClinGen | Clinical Genome Resource
    The ClinGen Dosage Sensitivity curation process collects evidence supporting refuting the haploinsufficiency and triplosensitivity of genes and genomic regions
  • 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
  • Working Groups - ClinGen | Clinical Genome Resource
    The Curated Disease Entity (CDE) WG focuses on harmonizing curation products related to monogenic diseases within ClinGen’s curation activities (gene variant actionability dosage), as well as between ClinGen and other entities (e g , Mondo, OMIM)
  • 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
  • ClinGen Web - Clinical Genome
    These files are updated daily Files are available for genes and regions localized on both GRCh37 and GRCh38 The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages, including disease name (when applicable), PMIDs used as evidence, and comments





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