ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)

gnomAD frequency: 0.00026  dbSNP: rs144259658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375244 SCV001572042 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, BP4_Supporting
Invitae RCV001871969 SCV002196810 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001871969 SCV003194959 uncertain significance not provided 2023-01-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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