Submissions for variant NM_003361.4(UMOD):c.1500A>G (p.Ala500=)

gnomAD frequency: 0.00037  dbSNP: rs200895986

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV002251353	SCV000395523	likely benign	Familial juvenile hyperuricemic nephropathy type 1	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905104	SCV001049669	benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002251353	SCV002806534	benign	Familial juvenile hyperuricemic nephropathy type 1	2021-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000905104	SCV005331023	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	UMOD: BP4, BP7, BS1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723904	SCV001958448	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000905104	SCV001975343	likely benign	not provided		no assertion criteria provided	clinical testing