ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2041-13G>A

gnomAD frequency: 0.00001  dbSNP: rs1450561353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002123834 SCV002450341 likely benign Glycogen storage disease, type II 2023-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002123834 SCV002798741 likely benign Glycogen storage disease, type II 2022-05-16 criteria provided, single submitter clinical testing

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