ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1956C>T (p.Phe652=)

gnomAD frequency: 0.00004  dbSNP: rs771733776
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417650 SCV001619855 likely benign Glycogen storage disease, type VII 2023-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004570994 SCV005051066 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing PFKM: BP4, BP7

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