ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)

dbSNP: rs1569540369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria RCV000714293 SCV000844920 pathogenic Dent disease type 1 no assertion criteria provided clinical testing

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