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 |
68
|
64
|
939
|
600
|
447
|
4
|
1690
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
22
|
5
|
284
|
426
|
316
|
0 |
1053
|
Ambry Genetics
|
7
|
1
|
290
|
64
|
1
|
0 |
363
|
Athena Diagnostics Inc
|
5
|
13
|
168
|
24
|
68
|
0 |
278
|
GeneDx
|
9
|
6
|
86
|
76
|
98
|
0 |
275
|
Genome-Nilou Lab
|
4
|
10
|
103
|
67
|
38
|
0 |
216
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
137
|
46
|
58
|
0 |
195
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
51
|
78
|
32
|
0 |
162
|
CeGaT Center for Human Genetics Tuebingen
|
5
|
3
|
65
|
44
|
8
|
0 |
125
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
44
|
18
|
6
|
0 |
68
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
20
|
13
|
18
|
0 |
51
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
21
|
24
|
0 |
47
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
1
|
0 |
21
|
23
|
0 |
45
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
11
|
26
|
0 |
38
|
Revvity Omics, Revvity
|
3
|
3
|
30
|
0 |
0 |
0 |
36
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
32
|
0 |
0 |
0 |
34
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
10
|
20
|
0 |
30
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
4
|
0 |
14
|
0 |
20
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
11
|
4
|
0 |
0 |
17
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
0 |
0 |
15
|
0 |
17
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
3
|
11
|
0 |
15
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
10
|
3
|
0 |
0 |
13
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
2
|
8
|
0 |
0 |
12
|
Inherited Neuropathy Consortium
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Baylor Genetics
|
2
|
1
|
6
|
0 |
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
MGZ Medical Genetics Center
|
0 |
3
|
5
|
0 |
0 |
0 |
8
|
Northcott Neuroscience Laboratory, ANZAC Research Institute
|
1
|
1
|
0 |
2
|
4
|
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
6
|
0 |
0 |
0 |
8
|
Mendelics
|
1
|
2
|
1
|
0 |
3
|
0 |
7
|
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
3
|
1
|
1
|
0 |
5
|
UM ALS/MND Lab, University Of Malta
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Paris Brain Institute, Inserm - ICM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Pangenia Genomics, Pangenia Inc.
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics, Synlab MVZ Humangenetik Freiburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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