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Article

Impact of variant reclassification in the clinical setting of cardiovascular genetics.

Journal of genetic counseling - 1 Apr 2021

VanDyke Rebecca E, Hashimoto Sayaka, Morales Ana, Pyatt Robert E, Sturm Amy C

Abstract excerpt

Genetic testing for cardiovascular disease (CVD) has advanced over the past ten years, but these advancements have posed new challenges in variant classification. To address these challenges, ACMG/AMP published guidelines for variant interpretation in 2015. This study aimed to determine what impact these guidelines have on variant classification in clinical cardiovascular genetics. A retrospective chart review...

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PMID: 33029862
DOI: 10.1002/jgc4.1336

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