ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)

gnomAD frequency: 0.00032  dbSNP: rs143248111
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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 RCV002251364 SCV000395542 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 RCV001245586 SCV001418883 likely benign not provided 2023-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001245586 SCV004141252 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing UMOD: PS4, PS3:Supporting
PreventionGenetics, part of Exact Sciences RCV004537795 SCV004719449 likely benign UMOD-related disorder 2023-01-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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