ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2092+9G>T

gnomAD frequency: 0.00003  dbSNP: rs371778846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459599 SCV001663446 likely benign Glycogen storage disease, type VII 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757447 SCV005352304 likely benign PFKM-related disorder 2024-03-21 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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