ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.765G>A (p.Gln255=)

dbSNP: rs1450999199
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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 RCV001404279 SCV001606177 likely benign Glycogen storage disease, type II 2023-10-22 criteria provided, single submitter clinical testing

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