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...
MotivationValidation of computational predictions of the clinical significance of genetic variants is an essential step in determining the clinical utility of these approaches. For many variants, experimental functional studies will play an important role
The Gene Curation Working Group Members have developed a tiered framework for assessing the evidence that supports or refutes any claimed associations between genes and genetic disorders. The “clinical validity” of gene-disease associations i...
MotivationVariants in coding and regulatory regions of genes are likely to be the most relevant for disease association. While many bioinformatics tools have been developed for predicting the effect of missense mutations, their accuracy is still far from
MotivationInterpreting the clinical significance of rare and novel genetic variants identified in whole-genome sequencing studies remains a critical challenge for patient care. Methods to predict the clinical significance of genetic variants that...
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
Centralizes communication between ClinGen’s major efforts for the purpose of understanding each of these group’s objectives, needs, and software challenges in order to align them in a manner that most effectively and efficiently supports ClinGen’s mission. Learn more
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