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 |
|
97
|
217
|
318
|
45
|
57
|
695
|
Gene and significance breakdown #
Total genes and gene combinations: 12
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
200
|
21
|
40
|
261
|
|
Fulgent Genetics, Fulgent Genetics
|
35
|
76
|
66
|
10
|
1
|
188
|
|
Baylor Genetics
|
33
|
92
|
23
|
0 |
0 |
148
|
|
Counsyl
|
4
|
40
|
29
|
6
|
0 |
79
|
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
25
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
2
|
16
|
1
|
0 |
20
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
2
|
7
|
7
|
17
|
|
Genome-Nilou Lab
|
0 |
1
|
0 |
0 |
15
|
16
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
1
|
5
|
6
|
13
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
13
|
13
|
|
3billion
|
3
|
1
|
3
|
1
|
0 |
8
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
4
|
0 |
0 |
0 |
7
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
3
|
2
|
0 |
0 |
6
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
2
|
0 |
1
|
5
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
3
|
0 |
0 |
5
|
|
Mendelics
|
1
|
0 |
1
|
2
|
1
|
5
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
3
|
1
|
0 |
0 |
4
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Daryl Scott Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Genetics, Sultan Qaboos University Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Medical Molecular Genetics Department, National Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
0 |
1
|
0 |
0 |
0 |
1
|
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