ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1198G>T (p.Ala400Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759632 SCV005368394 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-09-04 criteria provided, single submitter clinical testing Criteria applied: PM2

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