ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys)

gnomAD frequency: 0.00006  dbSNP: rs779525393
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318633 SCV001509345 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001318633 SCV002090270 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-12-26 no assertion criteria provided clinical testing

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