ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)

dbSNP: rs1057515585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences RCV002251368 SCV000348979 pathogenic Familial juvenile hyperuricemic nephropathy type 1 no assertion criteria provided clinical testing

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