ClinVar Miner

Variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase

Coded as:
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
20 29 155 58 46 1 283

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADSB 19 29 155 57 45 1 280
ACADSB, ARMS2, ATE1, BTBD16, C10orf120, C10orf88, CUZD1, DMBT1, FAM24A, FAM24B, FGFR2, HTRA1, IKZF5, NSMCE4A, PLEKHA1, PSTK, TACC2 1 0 0 0 0 0 1
ACADSB, IKZF5, LOC130004876 0 0 0 0 1 0 1
ACADSB, LOC130004876 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 89 15 37 0 143
Labcorp Genetics (formerly Invitae), Labcorp 18 7 59 42 15 0 141
Fulgent Genetics, Fulgent Genetics 4 17 4 0 0 0 25
Revvity Omics, Revvity 3 2 5 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 0 0 0 0 9
OMIM 8 0 0 0 0 0 8
Baylor Genetics 2 4 1 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 2 0 0 0 5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 3 1 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
New York Genome Center 0 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 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.