ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1653+8C>T

gnomAD frequency: 0.00022  dbSNP: rs369425921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841531 SCV000983502 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089134 SCV001075210 likely benign Glycogen storage disease, type VII 2024-07-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089134 SCV002091089 likely benign Glycogen storage disease, type VII 2020-08-31 no assertion criteria provided clinical testing

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