ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.732T>C (p.Cys244=)

dbSNP: rs1406800853
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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 RCV002105155 SCV002396705 likely benign Glycogen storage disease, type VII 2023-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395389 SCV004130681 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PFKM: PM2:Supporting, BP4, BP7

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