ClinVar Miner

Variants studied for cerebrovascular dementia

Included ClinVar conditions (15):
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
43 13 87 42 64 18 251

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH3 27 7 87 42 63 18 228
HTRA1 7 5 0 0 0 0 12
APP 5 1 0 0 0 0 6
ITM2B 2 0 0 0 0 0 2
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 1 0 0 0 0 0 1
CST3 1 0 0 0 0 0 1
MIR6795, NOTCH3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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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 24 0 0 0 0 0 24
GenomeConnect - CureCADASIL 0 0 0 0 0 18 18
Mendelics 5 1 3 1 4 0 14
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 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
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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