ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2040+20A>G (rs2304836)

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Total submissions: 4
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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 RCV000605515 SCV000733733 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078164 SCV000110002 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675236 SCV000800882 benign not provided 2015-10-19 no assertion criteria provided clinical testing
PreventionGenetics RCV000078164 SCV000302672 benign not specified criteria provided, single submitter clinical testing

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