ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.36G>C (p.Arg12=)

gnomAD frequency: 0.00001  dbSNP: rs1350688021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001272279 SCV001692943 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272279 SCV001454113 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-03-11 no assertion criteria provided clinical testing

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