ClinVar Miner

Variants studied for 3-methylcrotonyl-CoA carboxylase 2 deficiency

Included ClinVar conditions (1):
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
101 129 215 258 30 1 663

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCCC2 101 129 214 258 30 1 662
BDP1, MCCC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 92 51 136 249 15 0 543
Baylor Genetics 18 81 4 0 0 0 103
Illumina Laboratory Services, Illumina 0 3 57 6 9 0 75
Natera, Inc. 7 4 27 2 1 0 41
Revvity Omics, Revvity 4 5 9 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 5 6 1 0 0 12
Pars Genome Lab 0 0 0 1 11 0 12
OMIM 10 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 3 0 0 0 8
Genome-Nilou Lab 2 1 4 0 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
3billion 1 0 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 0 0 0 0 0 1

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