ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) (rs1057517492)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411620 SCV000487577 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-04-25 criteria provided, single submitter clinical testing
Counsyl RCV000409596 SCV000487578 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-04-25 criteria provided, single submitter clinical testing
Counsyl RCV000411103 SCV000487579 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-04-25 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.