ClinVar Miner

Variants studied for atypical hemolytic uremic syndrome with complement gene abnormality

Included ClinVar conditions (12):
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
24 57 581 128 169 21 1 931

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 2 17 250 67 68 4 0 393
CFI 8 26 119 29 26 6 1 195
THBD 0 5 124 8 38 3 0 176
CD46 12 9 56 7 10 6 0 95
CFB 1 0 28 9 13 2 0 49
C2, CFB 0 0 0 7 13 0 0 16
CD46, LOC129932405 0 0 2 1 1 0 0 4
CFH 0 0 2 0 0 0 0 2
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 6 36 388 84 6 0 0 520
Illumina Laboratory Services, Illumina 0 1 153 50 163 0 0 367
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 8 6 16 0 0 0 0 30
OMIM 0 0 0 0 0 21 0 21
MVZ Medizinische Genetik Mainz 5 4 10 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 1 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 0 0 0 8
Baylor Genetics 0 1 5 0 0 0 0 6
Mendelics 0 1 1 1 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 2 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
3billion 1 1 0 0 0 0 0 2
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 0 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 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.