ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1500A>G (p.Ala500=)

gnomAD frequency: 0.00037  dbSNP: rs200895986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251353 SCV000395523 likely benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000905104 SCV001049669 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002251353 SCV002806534 benign Familial juvenile hyperuricemic nephropathy type 1 2021-07-30 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723904 SCV001958448 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000905104 SCV001975343 likely benign not provided no assertion criteria provided clinical testing

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