Purpose The advent of next-generation sequencing resulted in substantial increases in the
number of variants detected, interpreted, and reported by molecular genetics diagnostic …

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 …

ACMG previously developed recommendations for standards for interpretation of sequence
variations. We now present the updated revised recommendations. Here, we describe six …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

Variant interpretation depends on accurate annotations using biologically relevant
transcripts. We have developed a systematic strategy for designating primary transcripts and …

Genetic tests often identify variants whose significance cannot be determined at the time
they are reported. In many situations, it is critical that clinicians be informed when new …

Purpose The knowledge used to classify genetic variants is continually evolving, and the
classification can change on the basis of newly available data. Although up-to-date variant …

To translate basic research findings into clinical practice, it is essential that information about
mutations and variations in the human genome are communicated easily and unequivocally …

Abstract In 2015, the American College of Medical Genetics and Genomics (ACMG),
together with the Association for Molecular Pathology (AMP), published the latest guidelines …