ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.428-39G>A

gnomAD frequency: 0.29774  dbSNP: rs2269933
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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 RCV000253928 SCV000303492 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533436 SCV001750029 benign Glycogen storage disease, type VII 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001675687 SCV001892121 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675687 SCV005232955 benign not provided criteria provided, single submitter not provided

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