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ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants

2026-07-31

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in the myocilin ( MYOC ) gene are the most common cause of Mendelian open-angle glaucoma. In 2022, the Clinical Genome Resource (ClinGen) Glaucoma Variant Curation Expert Panel (VCEP) published rule specifications for MYOC variant interpretation, including a pilot study of 81 variants. Here, we present the results of curating 271 MYOC variants reported in people with open...

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Literature Corpus work
50611c41-f6c1-5384-8c58-e5ee77a6c6b8
DOI
10.64898/2026.07.29.26359282
Open publication

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ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variantsDOI 10.64898/2026.07.29.26359282
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