Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by
frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden …

This international multidisciplinary document intends to provide clinicians with evidence-
based practical patient-centered recommendations for evaluating patients and decedents …

If genome sequencing is performed in health care, in theory the opportunity arises to take a
further look at the data: opportunistic genomic screening (OGS). The European Society of …

Health care is transitioning from genetics to genomics, in which single-gene testing for
diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other …

The evidence base supporting genetic and genomic sequence-variant interpretations is
continuously evolving. An inherent consequence is that a variant's clinical significance might …

Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …

There are several key unsolved issues relating to the clinical use of next generation
sequencing, such as: should laboratories report variants of uncertain significance (VUS) to …

Purpose To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments and
reclassifications between 2012 and 2017 at the Advanced Molecular Diagnostics Laboratory …