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 |
|
128
|
115
|
120
|
26
|
14
|
31
|
383
|
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 |
|
Fulgent Genetics, Fulgent Genetics
|
29
|
18
|
36
|
17
|
0 |
0 |
100
|
|
Counsyl
|
38
|
37
|
18
|
1
|
0 |
0 |
94
|
|
Illumina Laboratory Services, Illumina
|
3
|
1
|
58
|
4
|
7
|
0 |
73
|
|
University Children's Hospital, University of Zurich
|
41
|
0 |
0 |
0 |
0 |
0 |
41
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
31
|
31
|
|
Myriad Genetics, Inc.
|
0 |
27
|
1
|
0 |
0 |
0 |
28
|
|
Revvity Omics, Revvity
|
15
|
3
|
4
|
0 |
0 |
0 |
22
|
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
0 |
16
|
0 |
0 |
0 |
0 |
16
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
5
|
3
|
2
|
2
|
0 |
0 |
12
|
|
Mendelics
|
6
|
1
|
2
|
1
|
0 |
0 |
10
|
|
Genome-Nilou Lab
|
1
|
0 |
4
|
1
|
3
|
0 |
9
|
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
6
|
1
|
1
|
0 |
0 |
0 |
8
|
|
3billion
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
5
|
0 |
6
|
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
4
|
0 |
2
|
0 |
0 |
0 |
6
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
4
|
1
|
1
|
0 |
0 |
0 |
6
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
|
Baylor Genetics
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
|
Elsea Laboratory, Baylor College of Medicine
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
3
|
0 |
5
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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