ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1992T>C (p.Ala664=) (rs763585644)

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
Invitae RCV000976549 SCV001124453 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV001489314 SCV001693856 likely benign Galactosylceramide beta-galactosidase deficiency 2018-10-19 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.