ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.726G>A (p.Ala242=) (rs148578399)

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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 RCV000675220 SCV000338356 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000307971 SCV000526123 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000315968 SCV000407269 uncertain significance Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000315968 SCV000626634 benign Glycogen storage disease, type II 2018-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675220 SCV000800865 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing

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