ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)

gnomAD frequency: 0.00014  dbSNP: rs554813467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033998 SCV001197323 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001033998 SCV001454117 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-17 no assertion criteria provided clinical testing

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