ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1728-1G>C (rs1249951282)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672009 SCV000797061 pathogenic Hurler syndrome 2018-01-10 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001249440 SCV001423448 not provided Mucopolysaccharidosis type 1 no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 07-30-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.