ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1914A>G (p.Gln638=)

gnomAD frequency: 0.00014  dbSNP: rs903915351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325438 SCV001516430 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898313 SCV004709967 likely benign CPT2-related disorder 2022-01-04 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).
Natera, Inc. RCV001325438 SCV002092683 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-08-05 no assertion criteria provided clinical testing

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