ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.924C>T (p.Ile308=) (rs139726186)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724693 SCV000232688 uncertain significance not provided 2015-03-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275037 SCV000373029 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000275037 SCV000752187 likely benign Glycogen storage disease, type V 2017-10-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252449 SCV000311180 likely benign not specified 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.