ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2325C>T (p.Phe775=)

gnomAD frequency: 0.00001  dbSNP: rs1251258706
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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 RCV002125976 SCV002452256 likely benign Glycogen storage disease, type V 2023-08-05 criteria provided, single submitter clinical testing

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