ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)

dbSNP: rs797044812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV000192278 SCV001424984 likely pathogenic Dent disease type 1 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005049467 SCV005682719 likely 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 2024-01-14 criteria provided, single submitter clinical testing
GeneReviews RCV000192278 SCV000243786 not provided Dent disease type 1 no assertion provided literature only

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