Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

Marissa J. Stutzman, Dan Ye, David J. Tester, John R. Giudicessi, Michael J. Ackerman

Research output: Contribution to journalArticlepeer-review

Original languageEnglish (US)
Pages (from-to)163-168
Number of pages6
JournalHeartRhythm Case Reports
Volume5
Issue number3
DOIs
StatePublished - Mar 2019

Keywords

  • Brugada syndrome
  • Cardiac arrest
  • Genetic testing
  • Rare variant interpretation
  • SCN5A

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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