ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.299+3990A>G

gnomAD frequency: 0.66105  dbSNP: rs3822020
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
Genome-Nilou Lab RCV001544426 SCV001763465 benign Hurler syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544427 SCV001763466 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544428 SCV001763467 benign Mucopolysaccharidosis, MPS-I-S 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001709736 SCV001936760 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709736 SCV005306376 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.