ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.646C>T (p.Leu216=)

dbSNP: rs749665480
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
Counsyl RCV000670714 SCV000795606 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670714 SCV001698669 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-12-13 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.