ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078164 SCV000110002 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078164 SCV000302672 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000605515 SCV001159509 benign Glycogen storage disease, type II 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV000605515 SCV001732936 benign Glycogen storage disease, type II 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000605515 SCV001738044 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605515 SCV000733733 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675236 SCV000800882 benign not provided 2015-10-19 no assertion criteria provided clinical testing
Natera, Inc. RCV000605515 SCV001455428 benign Glycogen storage disease, type II 2019-09-09 no assertion criteria provided clinical testing

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