ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter)

dbSNP: rs1569540047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679942 SCV000807376 pathogenic Dent disease type 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in a 6-year-old male with a clinical diagnosis of Dent disease.

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