ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)

gnomAD frequency: 0.00001  dbSNP: rs1172714485
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Total submissions: 1
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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 RCV001375269 SCV001571747 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Strong, PM2_Moderate, PM5_Moderate, PP3_Supporting

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