ClinVar Miner

Variants studied for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
75 23 209 41 29 2 354

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCCC1 44 13 101 23 12 1 183
MCCC2 31 10 108 18 17 1 171

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 18 121 33 15 0 249
Illumina Clinical Services Laboratory,Illumina 1 2 97 9 14 0 123
OMIM 17 0 0 0 0 0 17
Fulgent Genetics,Fulgent Genetics 2 2 4 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 1 0 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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.