ClinVar Miner

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

Included ClinVar conditions (10):
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
31 11 45 50 38 1 175

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
COL4A1 26 9 41 47 28 1 151
COL4A2 5 2 4 0 3 0 14
COL4A1, COL4A2 0 0 0 3 7 0 10

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 40 50 33 0 123
OMIM 26 0 0 0 0 0 26
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
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1

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