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.
Save the Date! Curating the Clinical Genome 2020
Wellcome Genome Campus, UK, May 20-22, 2020 #CCG2020
ClinGen Receives Recognition Through New FDA Human Variant Database Program
The ClinGen expert curated variants are available for unrestricted use in the community via ClinVar.
November 14, 2019
ClinGen Celebrates Genetic Counselor Awareness DayJoin our organization in celebrating Genetic Counselor Awareness Day on November 14, 2019.
October 17, 2019
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
September 13, 2019
GenomeConnect - Where Data is SharedList of databases where data from GenomeConnect and the Patient Data Sharing Program are shared.
September 10, 2019
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
September 6, 2019
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
August 21, 2019
ClinGen Lysosomal Storage Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
August 12, 2019
Gene-Disease Validity Standard Operating Procedures, Version 7These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedure, version 7, released on August 12, 2019. A summary of the updates for version 7, as well as a highlighted and annotated pdf version are provided.
August 9, 2019
GenomeConnect Spring 2018 NewsletterThe Spring 2018 Newsletter includes information about Gregor Mendel, GenomeConnect data sharing to date, and how participants can make sure their data is shared!