ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1458C>T (p.Tyr486=)

dbSNP: rs141800038
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251355 SCV000395525 benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591462 SCV000700433 benign not specified 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000954993 SCV001101665 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000954993 SCV001779946 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294268 SCV002587519 benign Kidney disorder 2018-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954993 SCV004810846 benign not provided 2024-03-01 criteria provided, single submitter clinical testing UMOD: BP4, BP7, BS1, BS2

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