ClinVar Miner

Variants studied for thrombotic microangiopathy

Included ClinVar conditions (19):
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
96 91 561 258 274 30 6 1214

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 4 8 107 76 70 4 0 248
CFH 20 19 104 53 56 9 3 233
ADAMTS13 36 25 110 31 15 0 0 209
CFI 8 14 60 31 27 6 1 130
THBD 1 1 67 10 38 3 0 114
CD46 14 9 55 8 10 6 0 96
CFB 1 0 30 11 13 2 0 52
C2, CFB 0 0 1 17 15 0 0 26
CFHR5 1 0 5 8 2 0 0 16
DGKE 4 9 2 0 0 0 0 14
ADAMTS13, LOC130002910 2 0 5 1 0 0 0 8
CFHR3 0 0 2 3 3 0 0 8
CD46, LOC129932405 0 1 4 1 1 0 0 7
MYH9 0 0 0 0 7 0 0 7
CFHR1 0 0 4 0 0 0 0 4
CFHR2 0 0 0 2 2 0 0 4
COL4A3, MFF-DT 0 0 0 0 4 0 0 4
COL4A4 0 0 0 0 3 0 0 3
PLA2R1 0 0 0 0 3 0 0 3
BAAT 0 0 0 0 0 0 2 2
CFHR4 0 0 0 2 0 0 0 2
COL4A5 1 0 0 0 1 0 0 2
NPHS1 0 0 0 0 2 0 0 2
SMARCAL1 0 1 1 0 0 0 0 2
ADAMTS13, LOC130002909 0 0 0 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 0 1
C1GALT1C1 1 0 0 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 1 0 0 0 0 0 1
LAMB2 0 0 0 1 0 0 0 1
MMACHC 1 0 0 0 0 0 0 1
NLRP3 0 0 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 0 1
NPHP4 0 0 0 1 0 0 0 1
PLG 0 0 1 0 0 0 0 1
SOCS1 0 1 0 0 0 0 0 1
TMEM67 0 0 1 0 0 0 0 1
TRPC6 0 0 0 0 1 0 0 1
WT1 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 1 6 268 102 223 0 0 599
Fulgent Genetics, Fulgent Genetics 11 11 166 123 16 0 0 327
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 5 43 44 58 0 0 153
Genome-Nilou Lab 0 0 67 28 37 0 0 132
OMIM 24 0 0 0 0 30 0 54
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 15 10 21 0 0 0 0 46
Sydney Genome Diagnostics, Children's Hospital Westmead 13 6 23 0 0 1 0 43
MVZ Medizinische Genetik Mainz 7 9 15 0 0 0 0 31
Baylor Genetics 2 1 12 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
Mendelics 1 1 1 1 7 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 3 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 2 8 0 0 0 0 10
Revvity Omics, Revvity 0 2 7 0 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 6 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 0 0 0 8
GeneReviews 1 0 0 0 0 0 6 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 2 0 0 0 0 6
3billion 3 1 2 0 0 0 0 6
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 1 0 3 2 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 1 2 0 0 0 0 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 4 1 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 3
Department of Hematology, 303rd Hospital of the People's Liberation Army 3 0 0 0 0 0 0 3
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 0 2 0 0 0 0 0 2
Guangzhou First People’s Hospital, Institute of Blood Transfusion and Hematology,Guangzhou Medical University 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 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
Versiti Diagnostic Laboratories, Versiti, Inc 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 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
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 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
Reproductive Health Research and Development, BGI Genomics 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 0 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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