ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)

gnomAD frequency: 0.00071  dbSNP: rs113688475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594674 SCV000706956 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
New York Genome Center RCV004799220 SCV001431042 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2021-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594674 SCV002366907 likely benign not provided 2024-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000594674 SCV002498893 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003935618 SCV004763678 likely benign OTOG-related disorder 2023-06-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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