ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1880+32G>C

gnomAD frequency: 0.06152  dbSNP: rs4075914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248238 SCV000303485 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835757 SCV000977574 benign not provided 2018-06-19 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.
Pars Genome Lab RCV001533440 SCV001750035 benign Glycogen storage disease, type VII 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835757 SCV005232965 benign not provided criteria provided, single submitter not provided

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