ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.327T>C (p.Cys109=)

gnomAD frequency: 0.00001  dbSNP: rs1488873157
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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 RCV001409237 SCV001611254 likely benign Glycogen storage disease, type V 2019-06-23 criteria provided, single submitter clinical testing

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