ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1119C>T (p.Phe373=)

gnomAD frequency: 0.00009  dbSNP: rs151022264
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 RCV000254548 SCV000309231 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884222 SCV001027582 likely benign Glycogen storage disease, type VI 2020-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705094 SCV005212045 likely benign not provided criteria provided, single submitter not provided

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.