ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.813A>G (p.Ala271=)

gnomAD frequency: 0.00001  dbSNP: rs561154406
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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 RCV000924356 SCV001069869 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000924356 SCV002090277 likely benign Carnitine palmitoyltransferase II deficiency 2020-03-14 no assertion criteria provided clinical testing

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