ClinVar Miner

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

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
42 25 148 68 205 1 453

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 33 20 76 44 91 1 232
COL4A2 5 4 72 22 107 0 207
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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 117 66 201 0 355
OMIM 30 0 0 0 0 0 30
Athena Diagnostics Inc 0 0 0 0 19 0 19
Baylor Genetics 4 3 9 0 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 9 1 3 0 13
GeneReviews 11 0 0 0 0 0 11
Mendelics 1 2 0 0 5 0 8
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Variantyx, Inc. 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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

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