ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) (rs151340621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012565 SCV000032799 pathogenic Dent disease type 1 1997-08-01 no assertion criteria provided literature only
GeneReviews RCV000012565 SCV000243788 pathogenic Dent disease type 1 2014-09-25 no assertion criteria provided literature only

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