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 1,400 contributors from more than 30 countries. Below are a series of recent updates that ClinGen has been working on.
New! ClinGen Biocurator Educational Materials Page
The Biocurator Educational Materials page provides links to videos of Biocurator Working Group calls on various topics, and links to additional useful websites and materials.
CNV Guidelines Implementation Webinar
ClinGen will be hosting a webinar focused on clinical laboratories' implementation of the ACMG/ClinGen technical standards on November 10th.
September 30, 2020
ClinGen Gene-Disease Validity Curation Module
September 16, 2020
Expert Interpretation of Genes and Variants in Hereditary Hearing Loss
September 9, 2020
Specifications of the ACMG/AMP Standards and Guidelines for Mitochondrial DNA Variant Interpretation
September 4, 2020
PM2: Recommendation for Absence/Rarity Criterion PM2 (Version 1.0)
September 1, 2020
ClinGen GRIN COI
August 6, 2020
ClinGen Pediatric Actionability Working Group Protocol
August 6, 2020
ClinGen Adult Actionability Working Group Protocol
July 28, 2020
Data Sharing Policy for Contributors of Data for ClinGen Gene-Disease Clinical Validity CurationFurther information and policy for data contributors