ClinVar Miner

Submissions for variant NM_000203.4(IDUA):c.891C>T (p.Asn297=) (rs114806891)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078399 SCV000110245 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262223 SCV000451779 likely benign Mucopolysaccharidosis type I 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675605 SCV000801302 benign not provided 2015-10-23 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.