ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5833del (p.Ile1945fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV003128447 SCV002568096 pathogenic Autosomal recessive nonsyndromic hearing loss 9 no assertion criteria provided clinical testing

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