ClinVar Miner

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

Included ClinVar conditions (8):
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
26 7 44 50 34 1 161

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A1 23 6 41 47 27 1 144
COL4A1, COL4A2 0 0 0 3 7 0 10
COL4A2 3 1 3 0 0 0 7

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
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 24 0 0 0 0 0 24
Athena Diagnostics Inc 0 0 0 0 20 0 20
GeneReviews 11 0 0 0 0 0 11
Baylor Miraca Genetics Laboratories, 1 2 1 0 0 0 4
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
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Mendelics 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.