ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.114C>G (p.Gly38=)

gnomAD frequency: 0.00014  dbSNP: rs750638270
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000920750 SCV001066127 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004569813 SCV005051378 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MCCC2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV004569813 SCV005225556 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000920750 SCV001452996 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003902992 SCV004722700 likely benign MCCC2-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.