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

gnomAD frequency: 0.00991  dbSNP: rs187555378

Total submissions: 5

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).