ClinVar Miner

Submissions for variant NM_000537.4(REN):c.145C>T (p.Arg49Ter)

gnomAD frequency: 0.00001  dbSNP: rs121917741
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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 RCV001281274 SCV001425249 pathogenic Familial juvenile hyperuricemic nephropathy type 2 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002496353 SCV002810418 pathogenic Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of genetic origin 2022-02-17 criteria provided, single submitter clinical testing
OMIM RCV000014003 SCV000034250 pathogenic Renal tubular dysgenesis 2005-09-01 no assertion criteria provided literature only

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