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SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL

2022-02-21

Abstract excerpt

<h4>ABSTRACT</h4> The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific. To address this issue, the Clinical Genome Resource...

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Literature Corpus work: 938dfae2-1b63-5c31-b08c-a9644fd6108e
DOI: 10.1101/2022.02.16.22271025

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