ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.*725C>T

gnomAD frequency: 0.08927  dbSNP: rs1042265
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348400 SCV000414228 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381402 SCV000483749 benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289397 SCV000483750 benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672557 SCV001891391 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672557 SCV005209794 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.