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 |
|
46
|
89
|
235
|
95
|
108
|
3
|
519
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
151
|
21
|
52
|
0 |
224
|
|
Natera, Inc.
|
11
|
5
|
55
|
57
|
58
|
0 |
186
|
|
Fulgent Genetics, Fulgent Genetics
|
13
|
57
|
10
|
7
|
2
|
0 |
89
|
|
Genome-Nilou Lab
|
0 |
0 |
3
|
2
|
33
|
0 |
38
|
|
Revvity Omics, Revvity
|
3
|
8
|
6
|
0 |
0 |
0 |
17
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
14
|
2
|
0 |
17
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
12
|
2
|
0 |
0 |
16
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
9
|
2
|
0 |
0 |
0 |
13
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
3
|
6
|
0 |
12
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Baylor Genetics
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
|
Counsyl
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
|
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
3billion
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
Solve-RD Consortium
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomeconnect - The Bow Foundation (GNAO1)
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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