ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)

gnomAD frequency: 0.00078  dbSNP: rs140473672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878987 SCV001021994 likely benign Glycogen storage disease, type VII 2024-01-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878987 SCV003814897 uncertain significance Glycogen storage disease, type VII 2023-11-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792567 SCV005408318 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing BP4_moderate
Natera, Inc. RCV000878987 SCV001459560 uncertain significance Glycogen storage disease, type VII 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948282 SCV004765717 likely benign PFKM-related disorder 2023-06-16 no assertion criteria provided 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).

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