ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1327-18A>G (rs2278619)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078156 SCV000109994 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078156 SCV000302659 benign not specified criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000078156 SCV000221686 likely benign not specified 2016-09-28 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606017 SCV000733730 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675227 SCV000800873 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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