ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2483_2646+1del (rs1555603048)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000004246 SCV000086727 pathologic Glycogen storage disease, type II 2013-05-09 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000004246 SCV000024412 pathogenic Glycogen storage disease, type II 1998-03-01 no assertion criteria provided literature only

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