Article

Validation of the ACMG/AMP guidelines-based seven-category variant classification system

2023-01-25

Abstract excerpt

<h4>Background</h4> One shortcoming of employing the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP)-recommended five-category variant classification scheme (“pathogenic”, “likely pathogenic”, “uncertain significance”, “likely benign” and “benign”) in medical genetics lies in the scheme’s inherent inability to deal properly with variants that fall midway between “pa...

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Literature Corpus work: a4af5601-d180-5ca7-a9c6-3dc585baa4bc
DOI: 10.1101/2023.01.23.23284909

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