ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)

dbSNP: rs1060499657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV002251369 SCV000537712 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2016-09-26 criteria provided, single submitter clinical testing

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