ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1014+3A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041853 SCV005682690 uncertain significance Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2024-03-29 criteria provided, single submitter clinical testing

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