ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7400C>A (p.Thr2467Asn) (rs1554979068)

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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 RCV000601593 SCV000731735 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing The p.Thr2467Asn variant in OTOG has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analyses suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of the p.Thr2467Asn variant is uncertain.

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