ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1041C>T (p.Pro347=)

gnomAD frequency: 0.00001  dbSNP: rs1350163599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470753 SCV001674852 likely benign Glycogen storage disease, type VII 2023-08-01 criteria provided, single submitter clinical testing

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