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 |
222
|
76
|
81
|
46
|
83
|
1
|
20
|
515
|
Gene and significance breakdown #
Total genes and gene combinations: 28
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
DNA-diagnostics Laboratory, Research Centre For Medical Genetics
|
127
|
52
|
3
|
1
|
0 |
0 |
0 |
183
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
32
|
26
|
34
|
0 |
0 |
90
|
CeMIA
|
1
|
1
|
3
|
6
|
36
|
0 |
20
|
67
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
22
|
15
|
3
|
0 |
0 |
42
|
Peking Union Medical College Hospital
|
24
|
10
|
1
|
0 |
0 |
0 |
0 |
35
|
OMIM
|
31
|
0 |
0 |
0 |
0 |
1
|
0 |
32
|
Department of Immunology and Histocompatibility, University of Thessaly
|
28
|
3
|
1
|
0 |
0 |
0 |
0 |
32
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
0 |
14
|
Division of Rheumatology, Allergy and Immunology, UCSD
|
7
|
1
|
2
|
0 |
0 |
0 |
0 |
10
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
1
|
2
|
1
|
1
|
0 |
0 |
7
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Central Haematology Laboratory, Luzerner Kantonsspital
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Nöthen Lab, Institute of Human Genetics, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ITMI
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genatak
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioserve Biotechnologies India Pvt Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
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 |
0 |
1
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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