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 ClinVar is increasingly used as a resource for both genetic variant interpretation
and clinical practice. However, controversies exist regarding the consistency of …

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

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 …

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 …

ClinVar is a freely accessible, public archive of reports of the relationships among genomic
variants and phenotypes. To facilitate evaluation of the clinical significance of each variant …

Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and
their family members. Recent advances in low‐cost, high‐throughput DNA sequencing and …

Abstract The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working
Group set out to refine the American College of Medical Genetics and Genomics and the …