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Variant Reinterpretation in Survivors of Cardiac...
Journal article

Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories

Abstract

BACKGROUND: Following an unexplained cardiac arrest, clinical genetic testing is increasingly becoming standard of care. Periodic review of variant classification is required, as reinterpretation can change the diagnosis, prognosis, and management of patients and their relatives. METHODS: This study aimed to develop and validate a standardized algorithm to facilitate clinical application of the 2015 American College of Medical Genetics and …

Authors

Davies B; Bartels K; Hathaway J; Xu F; Roberts JD; Tadros R; Green MS; Healey JS; Simpson CS; Sanatani S

Journal

Circulation Genomic and Precision Medicine, Vol. 14, No. 3,

Publisher

Wolters Kluwer

Publication Date

June 2021

DOI

10.1161/circgen.120.003235

ISSN

1942-325X