ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular …

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 …

ClinGen considers the sharing of variant interpretations essential for supporting genomic medicine and a critical part of quality assurance for accurate genetic and genomic testing.

Funded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort. Explore our website to get to know our working groups, learn more about how we are meeting …

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.

Visit the "ClinGen Variant Classification Guidance" page for ClinGen's aggregated recommendations for using the ACMG/AMP criteria to improve consistency in usage and transparency in variant …

The ClinGen Dosage Sensitivity curation process collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions.

The ClinGen Artificial Intelligence and Automation Working Group (AIA WG) is established to strategically evaluate, guide, and implement the use of artificial intelligence (AI) and automation …

ClinGen variant curation utilizes the 2015 American College of Medical Genetics and Genomics (ACMG) guideline for sequence variant interpretation, which provides an evidence-based framework to …