ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2163G>A (p.Glu721=)

dbSNP: rs2143896953
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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 RCV001491175 SCV001695759 likely benign Glycogen storage disease, type II 2024-06-17 criteria provided, single submitter clinical testing

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