ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.-47T>C

gnomAD frequency: 0.03162  dbSNP: rs75645968
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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 RCV002251366 SCV000395544 benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000598333 SCV000700367 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001597081 SCV001831718 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002251366 SCV002513914 benign Familial juvenile hyperuricemic nephropathy type 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597081 SCV005290874 benign not provided criteria provided, single submitter not provided

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