Article
Reclassification of genetic variants in children with long QT syndrome.
Molecular genetics & genomic medicine - 1 Sept 2020
Westphal Dominik S, Burkard Tobias, Moscu-Gregor Alexander, Gebauer Roman, Hessling Gabriele, Wolf Cordula M
Abstract excerpt
BACKGROUND: Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed to evaluate the rate of change in variant classification based on current interpretation standards and dependent on clinical findings....
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