ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4096C>A (p.Pro1366Thr) (rs1554974319)

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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 RCV000605542 SCV000713190 uncertain significance not specified 2017-05-18 criteria provided, single submitter clinical testing The p.Pro1366Thr variant in OTOG has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Pro1366Thr var iant is uncertain.

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