ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)

dbSNP: rs1952754017
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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 RCV001799521 SCV001739297 likely pathogenic Autosomal dominant nonsyndromic hearing loss 25 2019-04-12 criteria provided, single submitter clinical testing

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