ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.278T>C (p.Val93Ala)

dbSNP: rs2141676565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV002251416 SCV001760367 pathogenic Familial juvenile hyperuricemic nephropathy type 1 no assertion criteria provided clinical testing

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