ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) (rs28936376)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675130 SCV000800705 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2018-05-10 criteria provided, single submitter clinical testing
OMIM RCV000009513 SCV000029731 pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 1995-01-01 no assertion criteria provided literature only

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.