ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1353C>G (p.Gly451=)

gnomAD frequency: 0.00378  dbSNP: rs111904030
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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 RCV000908245 SCV001052993 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294414 SCV002587153 likely benign Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505326 SCV002808460 likely benign Familial juvenile hyperuricemic nephropathy type 1 2021-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533474 SCV004751542 benign UMOD-related disorder 2019-07-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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