ClinVar Miner

Variants studied for Hemolytic uremic syndrome, atypical, susceptibility to, 1

Coded as:
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
16 16 99 39 55 9 5 228

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 14 14 94 39 55 9 3 217
CFHR1 0 0 3 0 0 0 0 3
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
CFHR3 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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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
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
MVZ Medizinische Genetik Mainz 3 4 4 0 0 0 0 11
OMIM 0 0 0 0 0 9 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 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, Medical Genetics 0 0 2 0 0 0 0 2
Research Laboratory - Department of Internal Medicine and Hematology, Semmelweis University 0 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 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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