ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.341T>C (p.Leu114Pro)

dbSNP: rs2138844314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001799529 SCV001739315 pathogenic Autosomal dominant nonsyndromic hearing loss 9 2020-09-30 criteria provided, single submitter clinical testing

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