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
18 19 24 6 0 51

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 total
C1R 14 14 10 3 28
C1S 3 4 14 3 22
C1R, C1RL 1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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
Fulgent Genetics, Fulgent Genetics 0 1 4 2 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 3 0 4
Revvity Omics, Revvity 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 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
Institute of Human Genetics, Cologne University 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 1
Suma Genomics 0 0 1 0 1

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