ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser)

gnomAD frequency: 0.00016  dbSNP: rs145165861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251349 SCV000395519 likely benign Familial juvenile hyperuricemic nephropathy type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago RCV001820942 SCV002066961 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061194 SCV002430902 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002061194 SCV005213439 likely benign not provided criteria provided, single submitter not provided

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