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

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 …

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

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 …

With the increased demand for molecular genetic testing there has been a marked change
in the scale and sensitivity of molecular genetic analysis within the service environment …

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 …

Disclaimer: This points to consider document is designed primarily as an educational
resource for medical geneticists and other clinicians to help them provide quality medical …

ContextA genetic basis has been identified for many medical conditions and some
molecular tests have been commercialized. However, little attention has been given to the …

Disclaimer These recommendations are designed primarily as an educational resource for
medical geneticists and other health-care providers to help them provide quality medical …

To the Editor: The joint consensus recommendation of the American College of Medical
Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) on …