ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1888+21G>A (rs2304837)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671177 SCV000796128 benign Glycogen storage disease, type II 2017-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675234 SCV000800880 benign not provided 2015-12-16 no assertion criteria provided clinical testing
PreventionGenetics RCV000251838 SCV000302670 benign not specified criteria provided, single submitter clinical testing

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