ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1005T>C (p.Leu335=)

gnomAD frequency: 0.00001  dbSNP: rs554776730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001482940 SCV001687321 likely benign Carnitine palmitoyltransferase II deficiency 2023-09-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001482940 SCV002090283 likely benign Carnitine palmitoyltransferase II deficiency 2021-09-09 no assertion criteria provided clinical testing

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