ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1124G>A (p.Arg375Gln)

gnomAD frequency: 0.00021  dbSNP: rs151061376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955507 SCV001102217 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002251380 SCV001273708 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000955507 SCV004141250 benign not provided 2023-07-01 criteria provided, single submitter clinical testing UMOD: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000955507 SCV005290863 benign not provided criteria provided, single submitter not provided

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