ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.546+20G>A

dbSNP: rs2510347703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003112092 SCV003786340 likely benign Glycogen storage disease, type II 2022-06-09 criteria provided, single submitter clinical testing

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