Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Document Type: Laboratory Guidance

Status: Current

DOI/URL: https://doi.org/10.1038/gim.2015.30

Publication Date: March 2015

Tier 1: Laboratory Genetics & Genomics

Tier 2: Variant Classification & Interpretation

Stewarding Entity: Laboratory Quality Assurance Committee; Lab QA

Date Accepted: January 28, 2015

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm

Article Keywords: ACMG laboratory guideline; clinical genetic testing; interpretation; reporting; sequence variant terminology; variant reporting; Association for Molecular Pathology; AMP; College of American Pathologists; CAP

Abbreviations: Association for Molecular Pathology; AMP; College of American Pathologists; CAP