ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1884C>T (p.Tyr628=)

dbSNP: rs901767832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001398847 SCV001600626 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946046 SCV004764853 likely benign CPT2-related disorder 2023-04-27 criteria provided, single submitter 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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