ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.400T>C (p.Leu134=)

gnomAD frequency: 0.00002  dbSNP: rs866423704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937864 SCV001083658 likely benign SLC35A1-congenital disorder of glycosylation 2019-12-31 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.