ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)

dbSNP: rs1558472243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000785617 SCV000924197 likely pathogenic Autosomal recessive nonsyndromic hearing loss 9 criteria provided, single submitter research

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