ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.2133A>G (p.Thr711=) (rs1800310)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000292038 SCV000733734 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078168 SCV000110006 benign not specified 2017-08-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078168 SCV000151254 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292038 SCV000407291 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675238 SCV000800884 benign not provided 2015-10-19 no assertion criteria provided clinical testing
PreventionGenetics RCV000078168 SCV000302674 benign not specified criteria provided, single submitter clinical testing

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