ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2647-23del (rs749000061)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673541 SCV000798753 uncertain significance Glycogen storage disease, type II 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000673541 SCV001116290 likely benign Glycogen storage disease, type II 2019-12-31 criteria provided, single submitter clinical testing

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