ClinVar Miner

Variants studied for infection-related hemolytic uremic syndrome

Included ClinVar conditions (4):
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 risk factor not provided total
17 18 101 52 57 9 5 236

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CFH 15 16 94 49 55 9 3 218
CFHR3 0 0 2 3 2 0 0 7
CFHR1 0 0 4 0 0 0 0 4
BAAT 0 0 0 0 0 0 2 2
DGKE 1 1 0 0 0 0 0 2
C3 0 0 1 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Genome-Nilou Lab 0 0 67 28 35 0 0 130
Fulgent Genetics, Fulgent Genetics 3 3 39 33 7 0 0 85
Illumina Laboratory Services, Illumina 0 0 22 13 46 0 0 81
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 2 5 0 0 0 0 14
OMIM 0 0 0 0 0 9 0 9
MVZ Medizinische Genetik Mainz 2 4 3 0 0 0 0 9
GeneReviews 1 0 0 0 0 0 5 6
Institute of Human Genetics, Cologne University 1 2 1 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 2
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 2
3billion 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1

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