The summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. A protocol guides the summary development
TitleAuthorsMeetingDateCityType of PresentationLack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants. Coll...
The Genomic Resources Search interface supports clinical genomics information needs by aiding the search for answers to genomics questions. By entering a disorder, a medication or a gene name, the user can search available ClinGen resources and many of th
ClinGen has a list of approximately 240 genes, including the ACMG 56 genes related to actionable secondary findings on exome sequencing. Many of the genes are associated with the conditions most frequently submitted to ClinVar. In many cases, different Cl
The mission of the Community Curation Working Group is to engage, identify, and communicate with potential ClinGen volunteers, and to facilitate the organization and placement of volunteers in curation efforts.
The Lumping and Splitting Working Group provides guidance for defining and refining disease entities for gene-disease classifications and partners with nosological and ontological authorities for the coordination of disease entity categorization and classification.
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