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 |
risk factor |
not provided |
total |
148
|
124
|
435
|
496
|
74
|
1
|
4
|
1149
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
100
|
45
|
297
|
423
|
25
|
0 |
0 |
890
|
GeneDx
|
15
|
5
|
30
|
49
|
48
|
0 |
0 |
147
|
Fulgent Genetics, Fulgent Genetics
|
13
|
4
|
43
|
23
|
0 |
0 |
0 |
83
|
Illumina Laboratory Services, Illumina
|
3
|
1
|
57
|
6
|
8
|
0 |
0 |
70
|
PreventionGenetics, part of Exact Sciences
|
2
|
7
|
8
|
32
|
15
|
0 |
0 |
64
|
UW Hindbrain Malformation Research Program, University of Washington
|
34
|
5
|
0 |
0 |
0 |
0 |
0 |
39
|
Ambry Genetics
|
2
|
3
|
24
|
4
|
0 |
0 |
0 |
33
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
6
|
15
|
2
|
0 |
0 |
0 |
32
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
30
|
0 |
0 |
0 |
0 |
0 |
30
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
1
|
12
|
7
|
3
|
0 |
0 |
27
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
1
|
0 |
26
|
Eurofins Ntd Llc (ga)
|
3
|
1
|
12
|
3
|
6
|
0 |
0 |
25
|
Genetic Services Laboratory, University of Chicago
|
2
|
5
|
5
|
9
|
3
|
0 |
0 |
24
|
Revvity Omics, Revvity
|
7
|
6
|
2
|
0 |
0 |
0 |
0 |
15
|
Baylor Genetics
|
3
|
0 |
8
|
0 |
0 |
0 |
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
1
|
1
|
5
|
3
|
0 |
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
3
|
4
|
0 |
0 |
0 |
0 |
10
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
2
|
4
|
0 |
0 |
8
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
3
|
3
|
0 |
0 |
0 |
0 |
8
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
7
|
Clinical Genetics, Academic Medical Center
|
1
|
1
|
0 |
1
|
3
|
0 |
0 |
6
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
5
|
Mendelics
|
1
|
0 |
2
|
0 |
2
|
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
1
|
3
|
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
1
|
0 |
2
|
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
3billion
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
3
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
TIDEX, University of British Columbia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genotek, Genotek Ltd.
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
University of Iowa Renal Genetics Clinic, University of Iowa
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics laboratory, Necker Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Precision Medicine Center, Zhengzhou University
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Suma Genomics
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Tolun Lab, Human Genetics Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Diagnostics Division, Gene Solutions
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
School of Computer Science, University of Waterloo
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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