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. 2019 Sep;103(1):e93.
doi: 10.1002/cphg.93.

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

Steven M Harrison  1   2 , Leslie G Biesecker  3 , Heidi L Rehm  1   2   4
Affiliations

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

Steven M Harrison et al. Curr Protoc Hum Genet. 2019 Sep.

Abstract

The 2015 ACMG/AMP guidelines established a classification system for sequence variants; however, the broad scope of these guidelines necessitates specification of evidence types for specific genes or diseases of interest. Since publication of the guidelines, both general use and disease-focused specifications have emerged to aid in accurate application of ACMG/AMP evidence types. This article summarizes the approaches to, and rationale for, specifying three evidence categories (population frequency data, variant type and location, and case-level data), including available resources and a quantitative framework that can inform the specification process. © 2019 by John Wiley & Sons, Inc.

Keywords: ACMG/AMP guidelines; clinical genetics; variant interpretation.

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References

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