Article
ClinGen--the Clinical Genome Resource.
The New England journal of medicine - 4 Jun 2015
Rehm Heidi L, Berg Jonathan S, Brooks Lisa D, Bustamante Carlos D, Evans James P, Landrum Melissa J, Ledbetter David H, Maglott Donna R, Martin Christa Lese, Nussbaum Robert L, Plon Sharon E, Ramos Erin M, Sherry Stephen T, Watson Michael S
Abstract excerpt
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family...
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