ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.888G>A (p.Leu296=)

gnomAD frequency: 0.00001  dbSNP: rs753083173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002422 SCV001160358 benign Glycogen storage disease, type VII 2019-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001002422 SCV002161143 likely benign Glycogen storage disease, type VII 2024-01-06 criteria provided, single submitter clinical testing

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