The Clinical Genome Resource (ClinGen), a resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic ...

Reaching a conclusive classification of germline variants in hereditary cancer genes is an arduous and challenging task that requires the integration of diverse types of evidence, including population ...

The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 ...

Despite advances in sequencing and standardized guidelines, many variants, particularly in genetically heterogeneous disorders such as hearing and vision loss, remain of uncertain significance.