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.
CNV Technical Standards Web Series Pre-/Post-Series Evaluation Project
Answers to example CNVs available every Monday starting May 4th.
May 28, 2020
GenomeConnect - Genetic Test Report Release Form
May 19, 2020
CIViC - Adding Source Suggestions
May 8, 2020
VHL Variant Curation Expert Panel COI
April 30, 2020
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
April 22, 2020
ClinGen Adult Actionability Working Group Slides
April 1, 2020
ClinGen Quarterly Update January-March 2020