ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2358G>A (p.Glu786=)

dbSNP: rs1467645013
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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 RCV001506512 SCV001711434 likely benign Glycogen storage disease, type V 2023-04-19 criteria provided, single submitter clinical testing

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