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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

7 Sept 2018

Abstract excerpt

The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide decision-making pathways...

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PMID: 30192042
DOI: 10.1002/humu.23626

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