ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.483G>A (p.Leu161=)

gnomAD frequency: 0.00001  dbSNP: rs199856938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841369 SCV000983331 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.
Natera, Inc. RCV001830857 SCV002091069 likely benign Glycogen storage disease, type VII 2020-10-29 no assertion criteria provided clinical testing

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