ClinVar Miner

Submissions for variant NM_000537.4(REN):c.127C>T (p.Arg43Ter)

gnomAD frequency: 0.00003  dbSNP: rs397514690
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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 RCV002496686 SCV002808732 pathogenic Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of genetic origin 2022-04-05 criteria provided, single submitter clinical testing
OMIM RCV000043472 SCV000067282 pathogenic Renal tubular dysgenesis 2012-02-01 no assertion criteria provided literature only

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