ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1551+49C>A

gnomAD frequency: 0.66585  dbSNP: rs2304843
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
PreventionGenetics, part of Exact Sciences RCV000254239 SCV000302662 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527134 SCV001738038 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001610560 SCV001836103 benign not provided 2015-03-03 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.