ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1203G>A (p.Gln401=) (rs1800304)

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Total submissions: 7
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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 RCV000344845 SCV000733729 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078155 SCV000109993 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078155 SCV000151249 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344845 SCV000407278 benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675226 SCV000800872 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000344845 SCV000679764 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078155 SCV000302658 benign not specified criteria provided, single submitter clinical testing

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