ClinVar Miner

Submissions for variant NM_000289.5(PFKM):c.-171C>A

gnomAD frequency: 0.06201  dbSNP: rs41291959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270470 SCV000379089 likely benign Glycogen storage disease, type VII 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672471 SCV001886594 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672471 SCV005216744 likely benign not provided criteria provided, single submitter not provided

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