ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1826dup (p.Tyr609Terfs) (rs786204727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169565 SCV000221062 likely pathogenic Glycogen storage disease, type II 2015-01-22 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727554 SCV000854784 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing

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