ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC

dbSNP: rs3071247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672349 SCV000797447 likely benign Glycogen storage disease, type II 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV000672349 SCV003236603 likely benign Glycogen storage disease, type II 2022-10-15 criteria provided, single submitter clinical testing

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