ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1260C>T (p.Arg420=)

gnomAD frequency: 0.00001  dbSNP: rs756454146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603633 SCV000725595 likely benign not specified 2018-01-08 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 RCV001403370 SCV001605239 likely benign Glycogen storage disease, type VII 2024-01-09 criteria provided, single submitter clinical testing

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