ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1581G>A (p.Arg527=) (rs1042396)

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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 RCV000078160 SCV000109998 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078160 SCV000151251 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078160 SCV000302664 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301295 SCV000407283 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000301295 SCV000679766 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000301295 SCV000733732 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675230 SCV000800876 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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