ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.676T>C (p.Leu226=)

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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 RCV003079422 SCV003467858 likely benign Carnitine palmitoyltransferase II deficiency 2024-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747199 SCV005343126 likely benign CPT2-related disorder 2024-04-17 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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