ClinVar Miner

Variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Included ClinVar conditions (7):
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
50 48 152 61 75 30 371

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH3 50 46 149 61 73 30 364
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
HTRA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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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 15 19 2 0 46
GenomeConnect - CureCADASIL 0 0 0 0 0 28 28
MGZ Medical Genetics Center 9 7 6 0 0 0 22
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 4 5 6 1 0 19
Genome-Nilou Lab 0 0 0 0 19 0 19
Institute of Human Genetics, University of Leipzig Medical Center 5 8 5 0 0 0 18
3billion 5 3 8 0 0 0 16
Mendelics 6 1 3 1 4 0 15
OMIM 13 0 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 8 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 6 0 0 0 10
Molecular Genetics, Royal Melbourne Hospital 2 3 3 0 0 0 8
Baylor Genetics 0 1 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 3 0 1 0 5
DASA 4 1 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 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
Istanbul Faculty of Medicine, Istanbul University 0 3 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 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
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 For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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