ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)

gnomAD frequency: 0.00001  dbSNP: rs373055147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286169 SCV001472698 uncertain significance Glycogen storage disease, type VII 2020-07-09 criteria provided, single submitter clinical testing

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