ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.388-5G>A (rs759254037)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000498502 SCV000331059 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000498502 SCV000589301 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The c.388-5 G>A pathogenic variant in the ACADM gene has been reported previously in association with medium chain acyl-CoA dehydrogenase (MCAD) deficiency (Kennedy et al., 2010).
Counsyl RCV000665148 SCV000789217 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-01-19 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.