ClinVar Miner

Variants studied for CADASIL

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
36 17 91 42 64 18 250

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH3 29 12 89 42 63 18 235
HTRA1 7 5 2 0 0 0 14
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
OMIM 16 0 0 0 0 0 16
Mendelics 5 1 3 1 4 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 5 3 0 0 0 11
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
Athena Diagnostics Inc 0 0 0 0 5 0 5
GeneReviews 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health: 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
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Department of Neurology,National Cerebral and Cardiovascular Center 1 0 0 0 0 0 1

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