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 |
total |
11
|
6
|
87
|
20
|
22
|
139
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
79
|
20
|
12
|
111
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
18
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
1
|
5
|
0 |
0 |
8
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
3billion
|
2
|
0 |
1
|
0 |
0 |
3
|
Human Developmental Genetics, Institut Pasteur
|
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
1
|
Precision Medicine Center, Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
1
|
0 |
0 |
1
|
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