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 |
|
424
|
127
|
1456
|
1140
|
427
|
49
|
2941
|
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
|
249
|
25
|
951
|
756
|
33
|
0 |
2014
|
|
Ambry Genetics
|
178
|
28
|
777
|
577
|
49
|
0 |
1609
|
|
Myriad Genetics, Inc.
|
66
|
17
|
0 |
172
|
300
|
0 |
555
|
|
GeneDx
|
73
|
10
|
180
|
88
|
47
|
0 |
398
|
|
Fulgent Genetics, Fulgent Genetics
|
10
|
8
|
135
|
28
|
2
|
0 |
183
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
15
|
3
|
51
|
96
|
8
|
0 |
173
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
34
|
4
|
72
|
29
|
27
|
0 |
166
|
|
PreventionGenetics, part of Exact Sciences
|
11
|
3
|
37
|
67
|
10
|
0 |
128
|
|
Baylor Genetics
|
11
|
2
|
114
|
0 |
0 |
0 |
127
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
54
|
14
|
47
|
0 |
90
|
|
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine
|
85
|
0 |
0 |
0 |
0 |
0 |
85
|
|
Sema4, Sema4
|
1
|
1
|
34
|
31
|
6
|
0 |
73
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
41
|
4
|
12
|
1
|
2
|
0 |
60
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
20
|
19
|
12
|
2
|
3
|
0 |
56
|
|
CeGaT Center for Human Genetics Tuebingen
|
10
|
1
|
13
|
26
|
5
|
0 |
55
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
23
|
1
|
10
|
12
|
7
|
0 |
53
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
11
|
37
|
0 |
51
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
14
|
4
|
4
|
6
|
9
|
0 |
37
|
|
Eurofins Ntd Llc (ga)
|
20
|
0 |
4
|
1
|
8
|
0 |
33
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
4
|
0 |
7
|
5
|
7
|
0 |
23
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
22
|
22
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
1
|
17
|
0 |
0 |
0 |
20
|
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
19
|
19
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
6
|
13
|
0 |
19
|
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
3
|
0 |
12
|
1
|
0 |
0 |
16
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
12
|
1
|
0 |
0 |
0 |
0 |
13
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
5
|
7
|
0 |
13
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
4
|
0 |
0 |
8
|
0 |
12
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
0 |
1
|
3
|
5
|
0 |
11
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
8
|
0 |
2
|
0 |
10
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
6
|
4
|
0 |
0 |
0 |
0 |
10
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
2
|
6
|
2
|
0 |
10
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
3
|
0 |
1
|
6
|
0 |
10
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
5
|
2
|
2
|
1
|
0 |
0 |
10
|
|
NHS Central & South Genomic Laboratory Hub
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
2
|
4
|
2
|
0 |
1
|
0 |
9
|
|
MGZ Medical Genetics Center
|
3
|
4
|
1
|
0 |
0 |
0 |
8
|
|
Revvity Omics, Revvity
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
1
|
5
|
0 |
7
|
|
Mendelics
|
2
|
0 |
2
|
2
|
1
|
0 |
7
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
4
|
0 |
0 |
6
|
|
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
|
Genetics and Molecular Pathology, SA Pathology
|
4
|
0 |
0 |
1
|
0 |
0 |
5
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
0 |
0 |
1
|
0 |
0 |
5
|
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Dasa
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Academic Department of Medical Genetics, University of Cambridge
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre of Medical Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Gazi University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pulmonary and Critical Care Medicine, The Affiliated Cangnan Hospital of Wenzhou Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics Department, Catlab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Gharavi Laboratory, Columbia University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Oncology Research Center, Barretos Cancer Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Otogenetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. The submitted information has not been verified.
If you have questions about the information contained on this
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