ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1941G>A (p.Met647Ile)

gnomAD frequency: 0.00038  dbSNP: rs78266699
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000545256 SCV000632601 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000545256 SCV001456155 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-10-28 no assertion criteria provided clinical testing

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