ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.412G>A (p.Gly138Arg) (rs747039991)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001310274 SCV001499892 uncertain significance Glycogen storage disease type III 2021-03-09 no assertion criteria provided clinical testing The clinical diagnosis is unclear: the patient sample was sent with indication: glycogenosis or muscle dystrophy or myositis. Symptoms were: muscle pain, paresis, tremor

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.