Article

Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria

2018-05-09

Abstract excerpt

<h4>ABSTRACT</h4> The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria. This guideline includes a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on the specific considerations for the different types of loss of function variants, nor did it pr...

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Literature Corpus work: 4d7ec297-e67f-54cc-845f-d70ce9196ded
DOI: 10.1101/313718

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