ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.546+4G>C

gnomAD frequency: 0.00011  dbSNP: rs550618589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430577 SCV001633319 likely benign Glycogen storage disease, type II 2023-10-15 criteria provided, single submitter clinical testing

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