ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)

dbSNP: rs764800004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667110 SCV000791508 uncertain significance Hurler syndrome 2017-05-12 criteria provided, single submitter clinical testing
GeneDx RCV001766440 SCV001999403 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Revvity Omics, Revvity RCV001766440 SCV003817590 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing

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.