ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2220G>C (p.Arg740=)

gnomAD frequency: 0.00019  dbSNP: rs533583089
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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 RCV000921211 SCV001066608 likely benign Glycogen storage disease, type V 2024-10-29 criteria provided, single submitter clinical testing

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