ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)

dbSNP: rs1933891368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040008 SCV005682695 pathogenic Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2024-05-29 criteria provided, single submitter clinical testing
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria RCV001200921 SCV001364056 pathogenic Dent disease type 1 no assertion criteria provided case-control

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