ClinVar Miner

Submissions for variant NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) (rs886043419)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790755 SCV000340018 pathogenic not provided 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000405383 SCV000798399 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2018-03-08 criteria provided, single submitter 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.