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 |
not provided |
total |
|
172
|
42
|
131
|
8
|
30
|
2
|
357
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Institute for Human Genetics, University Medical Center Freiburg
|
154
|
0 |
0 |
0 |
0 |
0 |
154
|
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
103
|
8
|
23
|
0 |
137
|
|
Fulgent Genetics, Fulgent Genetics
|
8
|
20
|
0 |
0 |
0 |
0 |
28
|
|
OMIM
|
20
|
0 |
1
|
0 |
0 |
0 |
21
|
|
Uitto Lab, Thomas Jefferson University
|
6
|
6
|
2
|
0 |
0 |
0 |
14
|
|
Baylor Genetics
|
1
|
4
|
5
|
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
3billion
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Department of Human Genetics, University Hospital Bern, Inselspital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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