ClinVar Miner

Variants studied for atypical hemolytic uremic syndrome with complement gene abnormality

Included ClinVar conditions (10):
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
21 22 284 126 169 21 1 610

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 2 8 89 68 68 4 0 230
CFI 8 7 54 27 26 6 1 117
THBD 0 1 58 7 38 3 0 106
CD46 9 6 53 7 10 6 0 87
CFB 1 0 26 9 13 2 0 47
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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 1 152 51 163 0 0 367
Fulgent Genetics, Fulgent Genetics 6 6 95 81 6 0 0 194
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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 3 0 5 0 0 0 0 8
Baylor Genetics 0 1 5 0 0 0 0 6
Mendelics 0 1 2 1 2 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
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
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

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