Impact of variant reclassification in the clinical setting of cardiovascular genetics

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Systematic Re-evaluation of SCN5A Variants Associated with Brugada Syndrome

(2018) Nathan C Denham et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

(2017) Austin Bland et al.   GENETICS IN MEDICINE

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

(2017) Joana Rita Chora et al.   GENETICS IN MEDICINE

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification

(2017) Chloe Reuter et al.   Journal of Genetic Counseling

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources

(2017) Ellen Zirkelbach et al.   Journal of Genetic Counseling

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

(2016) Judith Balmaña et al.   JOURNAL OF CLINICAL ONCOLOGY

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

(2015) Melanie G. Pepin et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

(2015) Michael J. Ackerman   HEART RHYTHM