ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.457-2A>G (rs771914739)

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 RCV000169016 SCV000220158 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-03-14 criteria provided, single submitter literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000169016 SCV000853167 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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.