ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2292T>C (p.His764=)

gnomAD frequency: 0.00001  dbSNP: rs765145687
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 RCV001464286 SCV001668252 likely benign Glycogen storage disease, type VII 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886514 SCV004702386 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PFKM: BP4, BP7

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