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A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.

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Date
2019-01
Authors
Connell, Patrick S
Jeewa, Aamir
Kearney, Debra L
Tunuguntla, Hari
Denfield, Susan W
Allen, Hugh D
Landstrom, Andrew P
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Abstract
Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.
Type
Journal article
Subject
cardiomyopathy
genetic testing
variant of unknown significance
whole exome sequencing
Permalink
https://hdl.handle.net/10161/20302
Published Version (Please cite this version)
10.1002/ccr3.1920
Publication Info
Connell, Patrick S; Jeewa, Aamir; Kearney, Debra L; Tunuguntla, Hari; Denfield, Susan W; Allen, Hugh D; & Landstrom, Andrew P (2019). A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. Clinical case reports, 7(1). pp. 211-217. 10.1002/ccr3.1920. Retrieved from https://hdl.handle.net/10161/20302.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Landstrom

Andrew Paul Landstrom

Associate Professor of Pediatrics
Dr. Landstrom is a physician scientist who specializes in the care of children and young adults with arrhythmias, heritable cardiovascular diseases, and sudden unexplained death syndromes. As a clinician, he is trained in pediatric cardiology with a focus on arrhythmias and genetic diseases of the heart.  He specializes in caring for patients with heritable arrhythmia (channelopathies) such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia,
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