ClinVar Miner

Variants studied for cerebral amyloid angiopathy

Included ClinVar conditions (14):
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 total
10 5 15 4 1 35

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APP 6 4 10 4 0 24
ITM2B 2 1 0 0 0 3
CST3 1 0 1 0 0 2
CST3, LOC130065546 0 0 2 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 1
CST3, LOC130065547 0 0 0 0 1 1
ITM2B, LOC130009751 0 0 1 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 6 4 1 12
OMIM 8 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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