ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2109G>A (p.Glu703=)

gnomAD frequency: 0.00120  dbSNP: rs200537357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712669 SCV000725469 likely benign not provided 2020-05-12 criteria provided, single submitter clinical testing
Invitae RCV000883987 SCV001027336 benign Glycogen storage disease, type V 2024-01-31 criteria provided, single submitter clinical testing

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