ClinVar Miner

Variants studied for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (3):
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
212 216 493 566 59 2 1391

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCCC1 117 95 252 305 26 1 720
MCCC2 94 119 234 258 30 1 656
LOC129938008, MCCC1 0 2 6 3 3 0 13
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 1 0 0 0 0 0 1
BDP1, MCCC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 191 95 328 553 33 0 1200
Natera, Inc. 24 8 134 11 10 0 187
Baylor Genetics 42 115 12 0 0 0 169
Illumina Laboratory Services, Illumina 1 2 97 9 14 0 123
Revvity Omics, Revvity 8 12 27 0 0 0 47
Fulgent Genetics, Fulgent Genetics 6 13 15 1 1 0 36
Pars Genome Lab 0 0 0 2 21 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 14 0 0 0 0 21
Genome-Nilou Lab 2 1 10 1 4 0 18
OMIM 17 0 0 0 0 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 4 4 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
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
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 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
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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