ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1212T>C (p.Ala404=)

gnomAD frequency: 0.00005  dbSNP: rs1203272613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001474829 SCV001679005 likely benign Glycogen storage disease, type VII 2023-12-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001474829 SCV004565015 likely benign Glycogen storage disease, type VII 2023-03-28 criteria provided, single submitter clinical testing

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