ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1755-3C>T

gnomAD frequency: 0.00001  dbSNP: rs748327755
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001248405 SCV001421889 uncertain significance Glycogen storage disease, type II 2022-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs748327755, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 972385). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001248405 SCV002092059 uncertain significance Glycogen storage disease, type II 2020-08-16 no assertion criteria provided 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.