ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.668G>A (p.Arg223His) (rs1042395)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078185 SCV000110023 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078185 SCV000151265 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000169616 SCV000221142 likely benign Glycogen storage disease, type II 2015-02-18 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000078185 SCV000302695 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169616 SCV000407267 benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000169616 SCV000733725 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675218 SCV000800863 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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