ClinVar Miner

Variants studied for 3-methylcrotonyl CoA carboxylase 2 deficiency

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Minimum submission review status: Collection method:
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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
42 18 129 87 26 1 281

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCCC2 42 18 129 87 26 1 281

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 12 66 80 11 0 200
Illumina Clinical Services Laboratory,Illumina 0 2 58 6 9 0 75
Pars Genome Lab 0 0 0 1 11 0 12
OMIM 10 0 0 0 0 0 10
Natera, Inc. 1 0 7 0 0 0 8
Nilou-Genome Lab 2 1 4 0 0 0 7
Baylor Genetics 1 1 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1

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