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

Published online

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Connell, PS; Jeewa, A; Kearney, DL; Tunuguntla, H; Denfield, SW; Allen, HD; Landstrom, AP

Published Date

  • January 2019

Published In

Volume / Issue

  • 7 / 1

Start / End Page

  • 211 - 217

PubMed ID

  • 30656044

Pubmed Central ID

  • 30656044

International Standard Serial Number (ISSN)

  • 2050-0904

Digital Object Identifier (DOI)

  • 10.1002/ccr3.1920

Language

  • eng

Conference Location

  • England