ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) (rs1557192084)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578351 SCV000680175 pathogenic Dent disease type 1 2017-10-12 criteria provided, single submitter clinical testing

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