ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)

dbSNP: rs1950977797
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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 RCV001284981 SCV001471083 uncertain significance Glycogen storage disease, type VII 2019-12-30 criteria provided, single submitter clinical testing

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