ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.596A>G (p.His199Arg) (rs1042393)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000275148 SCV000733723 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078183 SCV000110021 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078183 SCV000151263 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275148 SCV000407265 benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675217 SCV000800861 benign not provided 2015-10-19 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000275148 SCV000679769 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078183 SCV000302691 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.