ClinVar Miner

Variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

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
70 64 164 61 82 41 427

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH3 51 49 148 61 73 30 368
HTRA1 18 13 14 0 3 8 48
ARMS2, HTRA1 1 0 0 0 4 3 5
ATRIP, ATRIP-TREX1, TREX1 0 2 0 0 0 0 2
LOC130063807, NOTCH3 0 0 2 0 0 0 2
MIR6795, NOTCH3 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 0 83 42 59 0 186
Fulgent Genetics, Fulgent Genetics 6 4 16 19 2 0 47
GenomeConnect - CureCADASIL 0 0 0 0 0 28 28
OMIM 24 0 0 0 0 0 24
MGZ Medical Genetics Center 9 8 7 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 5 10 7 0 0 0 22
Genome-Nilou Lab 0 0 0 0 22 0 22
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 5 5 6 1 0 20
3billion 7 4 9 0 0 0 20
Mendelics 6 1 3 1 4 0 15
GeneReviews 1 0 0 0 0 14 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 7 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 8 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 5 0 1 0 11
Molecular Genetics, Royal Melbourne Hospital 2 3 3 0 0 0 8
Taipei Veterans General Hospital, Neurological Institute 3 4 0 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 6
Athena Diagnostics 0 0 0 0 6 0 6
New York Genome Center 0 0 5 0 0 0 5
DASA 4 1 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Istanbul Faculty of Medicine, Istanbul University 0 4 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Institute of Neurology, Charite University of Medicine 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Department of Clinical Laboratory, Peking University People's Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Neurology, National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
Clinical Genetics Service, Universitary Hospital 12 de Octubre 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 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

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