ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.921A>T (p.Ala307=) (rs1800303)

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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 RCV000078187 SCV000110025 benign not specified 2014-06-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078187 SCV000151267 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376333 SCV000407273 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675223 SCV000800869 benign not provided 2017-02-27 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000376333 SCV000679772 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078187 SCV000302703 benign not specified criteria provided, single submitter clinical testing

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