ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu) (rs939158613)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826000 SCV000967488 uncertain significance not specified 2019-01-16 criteria provided, single submitter clinical testing The p.Ser267Leu variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.006% (1/15428) of European chromo somes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of this variant is unc ertain. ACMG/AMP Criteria applied: PM2.

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