ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.1468+2T>C

gnomAD frequency: 0.00110  dbSNP: rs148019349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000509359 SCV001528231 uncertain significance Phosphoenolpyruvate carboxykinase deficiency, mitochondrial criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060174 SCV002473773 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509359 SCV000607049 not provided Phosphoenolpyruvate carboxykinase deficiency, mitochondrial no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV004755943 SCV005346382 likely benign PCK2-related disorder 2024-07-16 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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