ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) (rs281864969)

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 RCV000668032 SCV000792575 likely pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-07-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180686 SCV000233165 pathogenic not provided 2013-02-14 criteria provided, single submitter clinical testing
GeneReviews RCV000032282 SCV000055925 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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.