ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu)

gnomAD frequency: 0.00140  dbSNP: rs200508287
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001880 SCV000641214 likely benign MOGS-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001880 SCV001159607 likely benign MOGS-congenital disorder of glycosylation 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001550095 SCV001770373 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23806237)
PreventionGenetics, part of Exact Sciences RCV003935454 SCV004752080 benign MOGS-related condition 2019-06-27 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.