ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1561T>C (p.Phe521Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991938 SCV004810355 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-04-04 criteria provided, single submitter clinical testing

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