ClinGen is defining the clinical relevance of genes and variants. Founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 2,700 contributors from more than 70 countries.

The ClinGen gene curation process combines an appraisal of genetic and experimental data in the scientific literature with expert review to classify gene-disease pairs into 1 of 6 categories according to ClinGen's Gene-Disease Clinical Validity Classification framework.

The ClinGen Criteria Specification(CSpec) Registry is a centralized database designed for the management and maintenance of Criteria Specifications of ACMG evidence codes for variant pathogenicity classification defined by the ClinGen Variant Curation Expert Panels.

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

ClinGen investigators work closely with NCBI regarding the development and functionality of ClinVar and to support data deposition from many sources; ClinGen curation efforts will constantly improve the data within ClinVar.

These files are updated daily. Files are available for genes and regions localized on both GRCh37 and GRCh38. The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages, including disease name (when applicable), PMIDs used as evidence, and comments.

View the criteria specifications for this VCEP in ClinGen's Criteria Specification Registry (CSpec).

2019年12月31日 · We estimated odds of pathogenicity for assays using various numbers of variant controls to determine the minimum controls required to reach moderate level evidence. Feedback from the ClinGen Steering Committee and outside experts were incorporated into the recommendations at multiple stages of development.

The ClinGen Dosage Sensitivity tools aid the curation process that collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions. The interface is currently restricted to Dosage Sensitivity curators.

ClinGen Actionability Working Group aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.