ClinVar Miner

Variants studied for POLR3-related leukodystrophy

Included ClinVar conditions (10):
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
81 96 247 38 57 128 531

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLR3A 27 39 132 27 38 57 275
POLR3B 19 24 54 9 11 42 121
POLR1C 30 29 12 0 0 13 59
LOC100287944, POLR3B 0 2 31 0 5 10 43
LOC126860971, POLR3A 1 1 8 0 1 4 13
LOC126860970, POLR3A 2 0 5 0 1 1 9
LOC129996517, POLR1C 1 1 2 0 0 0 4
LOC130004143, POLR3A, RPS24 0 0 2 0 0 1 2
LOC130004144, POLR3A, RPS24 0 0 0 1 1 0 2
GUCY2D 1 0 0 0 0 0 1
LOC130008660, POLR3B 0 0 1 0 0 0 1
SLC35B2 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 162 33 54 0 251
GeneReviews 0 0 0 0 0 127 127
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 24 33 0 0 0 70
Fulgent Genetics, Fulgent Genetics 4 25 4 4 3 0 39
MyeliNeuroGene Lab, McGill University Health Center Research Institute 37 0 0 0 0 0 37
Baylor Genetics 8 3 16 0 0 0 27
OMIM 25 0 0 0 0 0 25
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 15 4 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 2 2 11 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 0 0 0 0 9
Undiagnosed Diseases Network, NIH 3 3 2 0 0 0 8
3billion, Medical Genetics 4 1 2 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 2 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 2 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 1 1 3 0 0 0 5
Mendelics 2 1 0 0 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Biochimie-Hormonologie, Robert Debre Hospital 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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