ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.978G>A (p.Glu326=)

gnomAD frequency: 0.00004  dbSNP: rs550083752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897461 SCV001041606 likely benign Glycogen storage disease, type VII 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910693 SCV004727124 likely benign PFKM-related disorder 2021-04-29 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. RCV000897461 SCV001463666 uncertain significance Glycogen storage disease, type VII 2020-01-24 no assertion criteria provided clinical testing

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