ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.792G>A (p.Val264=)

gnomAD frequency: 0.15554  dbSNP: rs13335818
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080094 SCV000111989 benign not specified 2015-03-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002251332 SCV000395537 benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510071 SCV001717010 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001510071 SCV001938953 benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510071 SCV005290868 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080094 SCV001927190 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080094 SCV001953854 benign not specified no assertion criteria provided clinical testing

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