ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)

gnomAD frequency: 0.00001  dbSNP: rs727502869
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
Fulgent Genetics, Fulgent Genetics RCV002498688 SCV002810964 likely pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-03-09 criteria provided, single submitter clinical testing
OMIM RCV000150099 SCV000196923 pathogenic Polyglucosan body myopathy type 2 2014-12-01 no assertion criteria provided literature only

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.