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
48 23 283 390 42 755

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACOX1 47 23 280 389 42 750
ACOX1, TEN1, TEN1-CDK3 0 0 2 1 0 3
ACOX1, FBF1, GALK1, H3-3B, ITGB4, MRPL38, TRIM47, TRIM65, UNC13D, UNK, WBP2 0 0 1 0 0 1
ACOX1, TEN1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 34 14 135 374 21 578
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 1 2 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 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
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

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