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 |
|
33
|
24
|
61
|
7
|
17
|
134
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
42
|
6
|
12
|
60
|
|
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH
|
16
|
9
|
1
|
0 |
0 |
26
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
3
|
5
|
0 |
0 |
10
|
|
Baylor Genetics
|
2
|
2
|
4
|
0 |
0 |
8
|
|
3billion
|
1
|
3
|
3
|
0 |
0 |
7
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
2
|
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
1
|
0 |
3
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
3
|
0 |
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Lifecell International Pvt. Ltd
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
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