ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1062C>T (p.Phe354=)

gnomAD frequency: 0.00362  dbSNP: rs78613713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251360 SCV000395532 likely benign Familial juvenile hyperuricemic nephropathy type 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000889988 SCV001033709 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000889988 SCV001871022 likely benign not provided 2021-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002251360 SCV002806506 likely benign Familial juvenile hyperuricemic nephropathy type 1 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000889988 SCV005213442 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.