ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.1468+2T>C (rs148019349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000509359 SCV001528231 pathogenic Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 2018-07-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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.

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