ClinVar Miner

Submissions for variant NC_000005.10:g.(?_71587406)_(71656880_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033338 SCV001196645 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant has not been reported in the literature in individuals with MCCC2-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the MCCC2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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.