ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)

dbSNP: rs876657841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542519 SCV001760029 likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A no assertion criteria provided clinical testing

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