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Article

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

American journal of human genetics - 2 Feb 2017

Li Quan, Wang Kai

Abstract excerpt

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria. However, variability between individual interpreters can be extensive because of reasons such as the different understandings of these...

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Identifiers

PMID: 28132688
DOI: 10.1016/j.ajhg.2017.01.004
PMCID: PMC5294755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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