ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2331+20G>A (rs2304832)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078169 SCV000110007 benign not specified 2018-06-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078169 SCV000302675 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000600128 SCV001717258 benign Glycogen storage disease, type II 2020-11-26 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000600128 SCV001737953 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600128 SCV000733735 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675242 SCV000800889 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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