ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.222G>A (p.Ser74=)

gnomAD frequency: 0.00001  dbSNP: rs754074132
Minimum review status: Collection method:
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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 RCV001483763 SCV001688168 likely benign Glycogen storage disease, type VII 2023-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704610 SCV005216746 likely benign not provided criteria provided, single submitter not provided

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