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 |
31
|
27
|
192
|
144
|
19
|
1
|
369
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
24
|
5
|
131
|
99
|
3
|
0 |
262
|
Ambry Genetics
|
8
|
4
|
50
|
45
|
1
|
0 |
108
|
GeneDx
|
21
|
4
|
30
|
27
|
12
|
0 |
94
|
Genome-Nilou Lab
|
14
|
9
|
29
|
21
|
5
|
0 |
78
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
0 |
14
|
10
|
7
|
0 |
46
|
PreventionGenetics, part of Exact Sciences
|
10
|
1
|
5
|
9
|
3
|
0 |
28
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
11
|
4
|
4
|
3
|
0 |
0 |
22
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
8
|
4
|
6
|
2
|
1
|
0 |
21
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
5
|
2
|
3
|
1
|
3
|
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
5
|
1
|
4
|
0 |
0 |
0 |
10
|
3billion
|
6
|
1
|
1
|
1
|
0 |
0 |
9
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
3
|
0 |
2
|
1
|
2
|
0 |
8
|
Revvity Omics, Revvity
|
5
|
1
|
2
|
0 |
0 |
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
0 |
2
|
0 |
0 |
0 |
8
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
2
|
3
|
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
1
|
1
|
1
|
0 |
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
3
|
0 |
0 |
0 |
2
|
0 |
5
|
Blueprint Genetics
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Molecular Genetics, Centre for Human Genetics
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
ClinGen RASopathy Variant Curation Expert Panel
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genomic Medicine Lab, University of California San Francisco
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Praenatalmedizin und Genetik Nuernberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
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
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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