ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1234G>T (p.Val412Leu)

dbSNP: rs575447822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247649 SCV001421085 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247649 SCV002090298 likely benign Carnitine palmitoyltransferase II deficiency 2021-02-25 no assertion criteria provided clinical testing

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