ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1410C>T (p.Asn470=)

gnomAD frequency: 0.00001  dbSNP: rs886043068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403878 SCV000338252 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Invitae RCV001089130 SCV001098990 likely benign Glycogen storage disease, type II 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000403878 SCV001758451 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001089130 SCV001810601 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392802 SCV002701757 likely benign Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001089130 SCV002092026 likely benign Glycogen storage disease, type II 2020-11-17 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.