ClinVar Miner

Variants studied for Knobloch syndrome

Included ClinVar conditions (1):
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
14 1 89 36 20 156

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 total
COL18A1 8 1 48 23 9 88
COL18A1, SLC19A1 6 0 40 13 11 67
ADAMTS18 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 85 35 11 131
OMIM 9 0 1 0 0 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 8 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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.