ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1476C>T (p.Gly492=)

gnomAD frequency: 0.00005  dbSNP: rs200847712
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 RCV000897540 SCV001041689 likely benign Glycogen storage disease, type VII 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000897540 SCV002091087 likely benign Glycogen storage disease, type VII 2020-10-29 no assertion criteria provided clinical testing

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