ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.710C>T (p.Ala237Val) (rs121907944)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664615 SCV000788610 uncertain significance Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing
OMIM RCV000004250 SCV000024416 pathogenic Glycogen storage disease II, adult form 2005-01-25 no assertion criteria provided literature only

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