ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)

gnomAD frequency: 0.00015  dbSNP: rs148399096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261661 SCV002541758 uncertain significance not provided 2021-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496193 SCV002777887 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2022-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002261661 SCV004616587 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548251 SCV004795473 likely benign PGK1-related disorder 2021-09-20 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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