Article

Consensus interpretation of the Met34Thr and Val37Ile variants in <i>GJB2</i> by the ClinGen Hearing Loss Expert Panel

2018-12-11

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants. <h4>METHODS</h4> The ClinGen Hearing Loss Expert Panel (HL-EP) collected published data a...

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Literature Corpus work: 67208972-e1a0-55e3-ba8e-b109f33d1be0
DOI: 10.1101/493130

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