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

This publication has 22 references indexed in Scilit:

• Taming the genome: towards better genetic test interpretation
  Genome Medicine, 2016
• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
  The American Journal of Human Genetics, 2016
• ClinGen — The Clinical Genome Resource
  New England Journal of Medicine, 2015
• 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
  Genetics in Medicine, 2015
• Conveying a probabilistic genetic test result to families with an inherited heart disease
  Heart Rhythm, 2014
• Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
  Genetics in Medicine, 2014
• New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
  European Journal of Human Genetics, 2013
• HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
  Heart Rhythm, 2011
• Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
  Journal of Cardiac Failure, 2009
• Mandatory Second Opinion in Surgical Pathology Referral Material: Clinical Consequences of Major Disagreements
  American Journal of Surgical Pathology, 2008