ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)

gnomAD frequency: 0.00001  dbSNP: rs80356775
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
Eurofins Ntd Llc (ga) RCV000079915 SCV000111798 uncertain significance not provided 2012-08-13 criteria provided, single submitter clinical testing
GeneReviews RCV000055866 SCV000086869 not provided Carnitine palmitoyl transferase 1A deficiency no assertion 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.