In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …

Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge
of clinical sequence variant interpretation. The demand for high‐quality interpretation …

Abstract Background The American College of Medical Genetics and American College of
Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely …

Abstract The Human Genome Variation Society (HGVS) variant nomenclature is widely used
to describe sequence variants in scientific publications, clinical reports, and databases …

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic
testing results. Application of next‐generation sequencing technology in molecular genetic …

Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …

Purpose: Data sharing through ClinVar offers a unique opportunity to identify interpretation
differences between laboratories. As part of a ClinGen initiative, four clinical laboratories …

Abstract ClinVar (https://www. ncbi. nlm. nih. gov/clinvar/) at the National Center for
Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical …

Abstract ClinVar (https://www. ncbi. nlm. nih. gov/clinvar/) is a freely available, public archive
of human genetic variants and interpretations of their significance to disease, maintained at …

Purpose Genetic testing has shifted from academic laboratories with expertise in specific
genes to commercial laboratories that offer tests of a diverse array of genes. The purpose of …