ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) (rs58037052)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000422439 SCV000227056 other not provided 2018-05-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422439 SCV000511059 benign not provided 2017-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000674553 SCV000799908 likely benign Dysostosis multiplex 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV000708549 SCV000837659 other Mucopolysaccharidosis type I 2018-12-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000422439 SCV000801292 uncertain significance not provided 2016-07-27 no assertion criteria provided 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.