ClinGen — The Clinical Genome Resource

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 members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the…

• BA
  Brigham and Women's Hospital
• NI
  National Institutes of Health

  Award: HHSN261200800001E
• SO
  School of Medicine, Stanford University
• UO
  University of North Carolina at Chapel Hill
• UO
  University of California, San Francisco
• NC
  National Cancer Institute
• NI
  National Institute of Child Health and Human Development
• UN
  U.S. National Library of Medicine
• EK
  Eunice Kennedy Shriver National Institute of Child Health and Human Development

  Award: HHSN261200800001E
• SO
  School of Medicine, University of California, San Francisco