ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)

dbSNP: rs794727700
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) RCV000724120 SCV000230870 likely pathogenic not provided 2014-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000178729 SCV000800540 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2018-04-04 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.