ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.1412T>G (p.Val471Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052970 SCV005686589 likely pathogenic Autosomal dominant nonsyndromic hearing loss 9 2025-01-09 criteria provided, single submitter research

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