ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, periodontitis type

Included ClinVar conditions (3):
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
17 18 21 6 0 46

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 total
C1R 14 14 9 3 27
C1S 2 3 12 3 18
C1R, C1RL 1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign total
Institute of Human Genetics, Medical University Innsbruck 16 0 0 0 16
University of Washington Center for Mendelian Genomics, University of Washington 0 16 0 0 16
OMIM 9 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 7
Fulgent Genetics, Fulgent Genetics 0 0 3 2 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 3 0 4
Revvity Omics, Revvity Omics 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 2
Baylor Genetics 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Suma Genomics 0 0 1 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.