ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)

dbSNP: rs2148021052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV003483835 SCV004229036 likely pathogenic Auditory neuropathy 2023-12-22 criteria provided, single submitter research
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823231 SCV001763607 pathogenic Autosomal recessive nonsyndromic hearing loss 9 no assertion criteria provided case-control

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