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 |
129
|
97
|
784
|
328
|
302
|
30
|
8
|
1500
|
Gene and significance breakdown #
Total genes and gene combinations: 62
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
C3
|
8
|
12
|
146
|
82
|
84
|
4
|
0 |
268
|
CFH
|
17
|
12
|
99
|
53
|
56
|
9
|
3
|
218
|
CFI
|
13
|
12
|
62
|
31
|
30
|
6
|
1
|
137
|
THBD
|
1
|
1
|
64
|
10
|
38
|
3
|
0 |
112
|
C5
|
4
|
4
|
55
|
41
|
0 |
0 |
0 |
104
|
MBL2
|
3
|
0 |
74
|
13
|
0 |
0 |
1
|
88
|
CD46
|
10
|
7
|
53
|
8
|
10
|
6
|
0 |
87
|
MASP2
|
1
|
2
|
39
|
6
|
15
|
0 |
0 |
59
|
C2
|
1
|
2
|
45
|
3
|
2
|
0 |
0 |
51
|
CFB
|
1
|
0 |
29
|
12
|
13
|
2
|
0 |
51
|
MASP2, TARDBP
|
0 |
0 |
23
|
5
|
3
|
0 |
0 |
31
|
C2, CFB
|
0 |
0 |
7
|
26
|
15
|
0 |
0 |
27
|
C7
|
14
|
5
|
7
|
2
|
0 |
0 |
0 |
26
|
C6
|
7
|
9
|
5
|
5
|
1
|
0 |
0 |
25
|
C8B
|
9
|
1
|
10
|
1
|
2
|
0 |
0 |
22
|
C9
|
7
|
7
|
6
|
2
|
0 |
0 |
0 |
19
|
CFHR5
|
1
|
0 |
5
|
8
|
2
|
0 |
0 |
16
|
DGKE
|
4
|
9
|
2
|
0 |
0 |
0 |
0 |
14
|
C1S
|
2
|
1
|
8
|
2
|
0 |
0 |
0 |
13
|
C1QC
|
4
|
0 |
6
|
0 |
0 |
0 |
1
|
10
|
C1QA
|
2
|
3
|
3
|
1
|
1
|
0 |
0 |
9
|
FCN3
|
1
|
1
|
6
|
2
|
0 |
0 |
0 |
8
|
C1QB
|
3
|
0 |
3
|
1
|
0 |
0 |
0 |
7
|
C8A
|
2
|
0 |
1
|
2
|
2
|
0 |
0 |
7
|
CD46, LOC129932405
|
0 |
1
|
4
|
1
|
1
|
0 |
0 |
7
|
CFHR3
|
0 |
0 |
1
|
3
|
3
|
0 |
0 |
7
|
MYH9
|
0 |
0 |
0 |
0 |
7
|
0 |
0 |
7
|
SERPING1
|
2
|
0 |
3
|
0 |
0 |
0 |
0 |
5
|
CFHR2
|
0 |
0 |
0 |
2
|
2
|
0 |
0 |
4
|
COL4A3, MFF-DT
|
0 |
0 |
0 |
0 |
4
|
0 |
0 |
4
|
ADAMTS13
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
C4A
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
C4B
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
C5, C5-OT1
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
CFD
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
COL4A4
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
FGA
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
FGG
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
PLA2R1
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
BAAT
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
CFHR1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CFHR4
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
COL4A5
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
FGB
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
NPHS1
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
SMARCAL1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
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
|
KMT2D
|
1
|
0 |
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
|
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 #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Illumina Laboratory Services, Illumina
|
1
|
2
|
397
|
121
|
230
|
0 |
0 |
682
|
Fulgent Genetics, Fulgent Genetics
|
18
|
21
|
206
|
174
|
16
|
0 |
0 |
435
|
Genome-Nilou Lab
|
0 |
0 |
67
|
28
|
69
|
0 |
0 |
164
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
3
|
5
|
43
|
44
|
58
|
0 |
0 |
153
|
OMIM
|
61
|
0 |
0 |
0 |
0 |
30
|
0 |
91
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
20
|
9
|
23
|
1
|
0 |
0 |
0 |
53
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
2
|
47
|
1
|
0 |
0 |
0 |
52
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
13
|
6
|
23
|
0 |
0 |
1
|
0 |
43
|
Baylor Genetics
|
7
|
2
|
23
|
0 |
0 |
0 |
0 |
32
|
Mendelics
|
4
|
1
|
5
|
2
|
4
|
0 |
0 |
16
|
Revvity Omics, Revvity
|
3
|
4
|
8
|
0 |
0 |
0 |
0 |
15
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
9
|
0 |
0 |
0 |
0 |
10
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
2
|
5
|
0 |
0 |
0 |
0 |
9
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
2
|
3
|
3
|
0 |
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
7
|
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
|
3billion
|
1
|
2
|
4
|
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, Cologne University
|
1
|
2
|
2
|
0 |
0 |
0 |
0 |
5
|
New York Genome Center
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
1
|
0 |
1
|
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Reproductive Health Research and Development, BGI Genomics
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ITMI
|
0 |
2
|
0 |
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
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
DASA
|
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
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
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
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
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
|
Carola Vinuesa Lab, John Curtin School of Medical Research
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, University hospital of Copenhagen, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
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
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
0 |
1
|
0 |
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
|
Pio d'adamo Lab, University Of Trieste
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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