ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)

dbSNP: rs2148020419
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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 RCV001823240 SCV001763616 likely pathogenic Autosomal recessive nonsyndromic hearing loss 9 no assertion criteria provided case-control

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