Variant reinterpretation in survivors of cardiac arrest with preserved ejection fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by …
B Davies, K Bartels, J Hathaway, F Xu… - Circulation: Genomic …, 2021 - Am Heart Assoc
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
Association for Molecular Pathology guidelines for the interpretation of genetic variants. The …
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
Association for Molecular Pathology guidelines for the interpretation of genetic variants. The …
[引用][C] Variant re-interpretation in survivors of cardiac arrest with preserved ejection fraction (CASPER registry) by clinicians and clinical commercial laboratories
B Davies, K Bartels, J Hathaway, F Xu, JD Roberts… - Circ Genom Precis Med, 2021