ClinVar Miner

Variants studied for leukoencephalopathy with vanishing white matter 1

Included ClinVar conditions (4):
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
48 49 212 36 40 12 363

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EIF2B5 23 20 54 20 3 8 109
EIF2B3 2 4 35 3 7 2 51
EIF2B2 10 10 27 2 3 2 48
EIF2B1 7 3 30 3 7 0 47
EIF2B4 1 7 26 0 2 0 34
EIF2B4, GTF3C2 2 4 17 3 6 0 31
EIF2B1, LOC126861664 2 1 6 0 8 0 16
EIF2B2, MLH3 0 0 0 4 2 0 6
EIF2B5, EIF2B5-DT 0 0 4 0 1 0 5
EIF2B1, LOC130009115 0 0 3 1 0 0 4
EIF2B3, LOC129930429 0 0 3 0 1 0 4
EIF2B5, LOC129938041 0 0 4 0 0 0 4
EIF2B5, LOC129938040 0 0 2 0 0 0 2
ANKLE2 1 0 0 0 0 0 1
ARHGEF6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 1 158 16 40 0 219
Natera, Inc. 8 6 7 18 1 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 17 0 0 0 0 35
Fulgent Genetics, Fulgent Genetics 6 2 6 4 0 0 18
Baylor Genetics 6 0 10 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 2 4 7 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 3 0 0 0 11
GeneReviews 0 0 0 0 0 10 10
Genome-Nilou Lab 2 0 5 0 2 0 9
OMIM 8 0 0 0 0 0 8
Mendelics 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 1 0 0 0 5
3billion 2 1 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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