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
97 31 292 114 29 2 520

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
MCCC1 55 14 145 57 12 1 267
MCCC2 42 17 147 57 17 1 253

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 24 154 105 15 0 380
Illumina Clinical Services Laboratory,Illumina 1 2 97 9 14 0 123
Natera, Inc. 12 1 78 7 7 0 105
OMIM 17 0 0 0 0 0 17
Baylor Genetics 2 3 8 0 0 0 13
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 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
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
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
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
Nilou-Genome Lab 0 0 0 1 0 0 1

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