ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.548T>A (p.Val183Asp)

dbSNP: rs1060499650
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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 RCV000449594 SCV000537694 uncertain significance Autosomal dominant nonsyndromic hearing loss 22 2016-07-12 criteria provided, single submitter clinical testing

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