ClinVar Miner

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

Included ClinVar conditions (3):
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
30 15 105 43 64 18 254

Gene and significance breakdown #

Total genes and gene combinations: 2
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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
MIR6795, NOTCH3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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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
GenomeConnect - CureCADASIL 0 0 0 0 0 18 18
Mendelics 5 1 3 1 4 0 14
OMIM 12 0 0 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 8 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 3 5 4 0 0 0 12
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 3 1 1 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Baylor Genetics 0 0 4 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
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 for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Department of Neurology,National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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