ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.538C>G (p.Leu180Val)

gnomAD frequency: 0.00991  dbSNP: rs187555378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177175 SCV000229008 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002251334 SCV000395538 benign Familial juvenile hyperuricemic nephropathy type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000968727 SCV001116197 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000968727 SCV002504662 likely benign not provided 2021-01-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004539648 SCV004778185 benign UMOD-related disorder 2019-09-06 criteria provided, single submitter 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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