ClinVar Miner

Variants studied for Acyl-CoA oxidase deficiency

Coded as:
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Gene type:
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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 total
43 22 281 390 42 748

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 total
ACOX1 43 22 279 389 42 745
ACOX1, TEN1, TEN1-CDK3 0 0 2 1 0 3

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 14 133 374 21 571
Illumina Laboratory Services, Illumina 0 0 143 11 24 178
Natera, Inc. 0 0 10 20 13 43
OMIM 8 0 0 0 0 8
Genome-Nilou Lab 0 0 1 1 5 7
Baylor Genetics 2 0 2 0 0 4
Mendelics 2 0 0 0 1 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1

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