ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1041C>T (p.Gly347=)

dbSNP: rs985374504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058501 SCV001223077 likely benign Carnitine palmitoyltransferase II deficiency 2023-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001058501 SCV002090284 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-08-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003906166 SCV004727516 likely benign CPT2-related disorder 2022-01-17 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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