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 |
total |
92
|
21
|
69
|
40
|
78
|
1
|
295
|
Gene and significance breakdown #
Total genes and gene combinations: 12
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
32
|
26
|
34
|
0 |
90
|
CeMIA
|
1
|
1
|
3
|
6
|
36
|
0 |
47
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
21
|
11
|
3
|
0 |
37
|
Peking Union Medical College Hospital
|
24
|
10
|
1
|
0 |
0 |
0 |
35
|
Department of Immunology and Histocompatibility, University of Thessaly
|
28
|
3
|
1
|
0 |
0 |
0 |
32
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
1
|
26
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
Division of Rheumatology, Allergy and Immunology, UCSD
|
7
|
1
|
2
|
0 |
0 |
0 |
10
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Central Haematology Laboratory, Luzerner Kantonsspital
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Nöthen Lab, Institute of Human Genetics, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
HSP Biomedical Diagnostics Department, Hospital San Pedro
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ITMI
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genatak
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATS GeneTech Pvt Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
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