ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)

gnomAD frequency: 0.00003  dbSNP: rs201238842
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001434481 SCV001637287 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279173 SCV001466255 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-23 no assertion criteria provided 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.