ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) (rs151340630)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012576 SCV000032810 pathogenic Dent disease type 1 2006-01-01 no assertion criteria provided literature only
GeneReviews RCV000012576 SCV000055645 pathologic Dent disease type 1 2012-08-09 no assertion criteria provided curation Converted during submission to Pathogenic.

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