ClinVar Miner

Variants studied for Bifunctional peroxisomal enzyme deficiency

Coded as:
Minimum submission review status: Collection method:
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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
30 113 95 22 27 260

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
HSD17B4 28 108 92 22 27 252
HSD17B4, LOC129994460 2 5 3 0 0 8

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 15 61 1 0 0 77
Natera, Inc. 5 4 31 9 13 62
Counsyl 0 38 18 5 0 61
Illumina Laboratory Services, Illumina 0 0 39 8 14 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 10 0 0 0 21
Genome-Nilou Lab 1 0 2 0 12 15
Neuberg Centre For Genomic Medicine, NCGM 0 3 6 0 0 9
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 0 0 0 7
3billion 4 0 0 0 0 4
Mendelics 1 1 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
Myriad Genetics, Inc. 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
ITMI 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Suma Genomics 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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