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 |
affects |
not provided |
total |
235
|
227
|
615
|
582
|
78
|
1
|
22
|
1515
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
203
|
72
|
405
|
517
|
30
|
0 |
0 |
1227
|
GeneDx
|
44
|
28
|
85
|
68
|
57
|
0 |
0 |
282
|
Athena Diagnostics
|
46
|
20
|
78
|
9
|
14
|
0 |
0 |
167
|
Revvity Omics, Revvity
|
28
|
21
|
100
|
1
|
0 |
0 |
0 |
150
|
Fulgent Genetics, Fulgent Genetics
|
31
|
46
|
7
|
5
|
0 |
0 |
0 |
89
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
28
|
15
|
38
|
4
|
0 |
0 |
0 |
85
|
Illumina Laboratory Services, Illumina
|
6
|
0 |
25
|
22
|
28
|
0 |
0 |
81
|
Ambry Genetics
|
1
|
0 |
59
|
2
|
0 |
0 |
0 |
62
|
CeGaT Center for Human Genetics Tuebingen
|
24
|
10
|
9
|
11
|
3
|
0 |
0 |
57
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
11
|
40
|
0 |
0 |
51
|
PreventionGenetics, part of Exact Sciences
|
12
|
4
|
8
|
10
|
4
|
0 |
0 |
38
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
12
|
6
|
5
|
0 |
0 |
1
|
0 |
24
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
6
|
10
|
7
|
0 |
0 |
0 |
0 |
23
|
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences
|
1
|
13
|
0 |
8
|
1
|
0 |
0 |
23
|
OMIM
|
21
|
0 |
1
|
0 |
0 |
0 |
0 |
22
|
MGZ Medical Genetics Center
|
12
|
4
|
6
|
0 |
0 |
0 |
0 |
22
|
Mayo Clinic Laboratories, Mayo Clinic
|
15
|
1
|
4
|
0 |
0 |
0 |
0 |
20
|
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
|
7
|
5
|
7
|
0 |
0 |
0 |
0 |
19
|
Neuberg Centre For Genomic Medicine, NCGM
|
5
|
6
|
6
|
0 |
0 |
0 |
0 |
17
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
14
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
6
|
4
|
0 |
0 |
0 |
0 |
13
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
|
2
|
9
|
1
|
0 |
0 |
0 |
0 |
12
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
3
|
0 |
0 |
0 |
7
|
0 |
0 |
10
|
Institute of Human Genetics, University of Leipzig Medical Center
|
5
|
3
|
2
|
0 |
0 |
0 |
0 |
10
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
0 |
7
|
0 |
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
0 |
10
|
3billion
|
4
|
3
|
3
|
0 |
0 |
0 |
0 |
10
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
5
|
0 |
2
|
0 |
0 |
9
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
4
|
4
|
1
|
0 |
0 |
0 |
0 |
9
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
2
|
2
|
0 |
0 |
0 |
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Molecular Genetics, Royal Melbourne Hospital
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
8
|
Baylor Genetics
|
4
|
1
|
3
|
0 |
0 |
0 |
0 |
7
|
Mendelics
|
2
|
1
|
3
|
0 |
1
|
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
4
|
0 |
0 |
5
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
DASA
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
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
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
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
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
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
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Regulation of Neurogenesis, University of Liege
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics, MediClubGeorgia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics, Clalit Research Institute, Clalit Health Care
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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