ClinVar Miner

Variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Included ClinVar conditions (5):
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
49 22 109 43 68 20 286

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH3 30 15 105 43 63 18 253
HTRA1 19 7 4 0 0 2 28
ARMS2, HTRA1 0 0 0 0 4 0 4
MIR6795, NOTCH3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 83 42 59 0 186
OMIM 23 0 0 0 0 0 23
GenomeConnect - CureCADASIL 0 0 0 0 0 18 18
GeneReviews 12 0 0 0 3 0 15
Mendelics 5 1 3 1 4 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 5 5 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 8 0 0 0 12
Athena Diagnostics Inc 0 0 0 0 9 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 7
Department of Neurology,Taipei Veterans General Hospital 3 4 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 3 1 1 0 0 6
Baylor Genetics 0 0 5 0 0 0 5
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 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
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
Undiagnosed Diseases Network,NIH 0 0 1 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
Diagnostics Lab (ASPIRE), 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
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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