ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)

gnomAD frequency: 0.00005  dbSNP: rs745739278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427834 SCV000533069 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001465570 SCV001669559 likely benign Glycogen storage disease, type VII 2024-12-18 criteria provided, single submitter clinical testing

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