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:

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
18 21 29 6 0 1 58

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 not provided total
C1R 14 16 14 3 0 34
C1S 3 4 15 3 1 23
C1R, C1RL 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Institute of Human Genetics, Medical University Innsbruck 16 0 0 0 0 16
University of Washington Center for Mendelian Genomics, University of Washington 0 16 0 0 0 16
OMIM 9 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 0 7
Fulgent Genetics, Fulgent Genetics 0 1 4 2 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 3 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 2 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1

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