ClinVar Miner

Variants studied for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

Included ClinVar conditions (11):
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
35 18 127 66 204 1 418

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A1 26 14 66 43 90 1 209
COL4A2 5 3 61 21 107 0 195
COL4A1, COL4A2 0 0 0 2 7 0 9
COLGALT1 4 0 0 0 0 0 4
COLGALT1, NIBAN3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 117 66 201 0 354
OMIM 30 0 0 0 0 0 30
Athena Diagnostics Inc 0 0 0 0 20 0 20
GeneReviews 11 0 0 0 0 0 11
Mendelics 1 2 0 0 5 0 8
Baylor Genetics 1 2 1 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 2 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 1 0 0 0 2
Genetic Services Laboratory,University of Chicago 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1

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