ClinGen is defining the clinical relevance of genes and variants
ClinGen was founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 1,100 contributors from more than 30 countries. Below are a series of recent updates that ClinGen has been working on.
ACMG/ClinGen Technical Standards for CNVs
Our in-depth, multi-part overview of the new ACMG/ClinGen technical standards for interpretation and reporting of constiutional CNVs has concluded. All recordings are available.
PAR-20-101 Genomic Expert Curation Panel Opportunity
FOA to establish Expert Panels which will use ClinGen and NCBI's ClinVar procedures and infrastructure.
March 26, 2020
Dilated Cardiomyopathy Gene Curation Expert Panel COI
March 25, 2020
ClinGen Posters in ACMG Poster Gallery
March 12, 2020
ClinGen Gene Curation Expert Panel (GCEP) Quick Guide
February 20, 2020
PAR-20-101 Genomic Expert Curation Panel Funding OpportunityFOA to establish Expert Panels which will use ClinGen and NCBI's ClinVar procedures and infrastructure.
February 18, 2020
Recommended Terminology for Variants with Decreased Penetrance for Mendelian ConditionsRecommendations from the ClinGen Low-Penetrance/Risk Allele Working Group on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants.
January 27, 2020
An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome