ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) (rs151340620)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012563 SCV000032797 pathogenic Dent disease type 1 1997-03-01 no assertion criteria provided literature only
OMIM RCV000012564 SCV000032798 pathogenic Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 1997-03-01 no assertion criteria provided literature only

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