ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1227C>T (p.Asp409=)

gnomAD frequency: 0.00001  dbSNP: rs2039157937
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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 RCV002103108 SCV002389346 likely benign Glycogen storage disease, type II 2024-09-06 criteria provided, single submitter clinical testing

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