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 ...

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 ...

Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype.

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 ...

For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...

The genetic confirmation of a suspected diagnosis of "hereditary colorectal cancer" is of great importance for the medical care of affected families. However, many of the variants identified in the ...

Imagine that you have a history of breast cancer in your family, and you want a better idea of what your personal risk is. You consult your physician, and they recommend that you test to see if you ...