ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)

dbSNP: rs374824469
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287107 SCV001473754 uncertain significance Glycogen storage disease, type VII 2019-11-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793378 SCV005408321 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing BP4_strong, PM2_moderate
Natera, Inc. RCV001287107 SCV002091081 uncertain significance Glycogen storage disease, type VII 2020-11-25 no assertion criteria provided clinical testing

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