ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter)

dbSNP: rs753580324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center RCV000515693 SCV000611794 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2017-07-01 criteria provided, single submitter clinical testing

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