ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2040+16C>T

gnomAD frequency: 0.00001  dbSNP: rs573522544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668010 SCV000792551 likely benign Glycogen storage disease, type II 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000668010 SCV002433836 likely benign Glycogen storage disease, type II 2024-01-09 criteria provided, single submitter clinical testing

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