ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.459C>T (p.Ser153=)

gnomAD frequency: 0.00021  dbSNP: rs145519821
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842129 SCV000984125 likely benign not provided 2018-05-01 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.
Invitae RCV001277401 SCV001647435 likely benign Glycogen storage disease, type VII 2023-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001277401 SCV004562571 likely benign Glycogen storage disease, type VII 2023-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948035 SCV004757964 likely benign PFKM-related condition 2021-10-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001277401 SCV001464350 likely benign Glycogen storage disease, type VII 2020-11-14 no assertion criteria provided clinical testing

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