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 |
471
|
241
|
2244
|
1172
|
148
|
1
|
15
|
3880
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
241
|
100
|
1677
|
773
|
44
|
0 |
0 |
2835
|
Ambry Genetics
|
165
|
58
|
1180
|
574
|
16
|
0 |
0 |
1993
|
Color Diagnostics, LLC DBA Color Health
|
70
|
18
|
671
|
361
|
23
|
0 |
0 |
1143
|
GeneDx
|
22
|
31
|
343
|
142
|
104
|
0 |
0 |
642
|
Myriad Genetics, Inc.
|
265
|
57
|
17
|
24
|
12
|
0 |
0 |
375
|
Baylor Genetics
|
24
|
54
|
165
|
0 |
0 |
0 |
0 |
243
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
7
|
129
|
55
|
12
|
0 |
0 |
215
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
11
|
4
|
123
|
39
|
27
|
0 |
0 |
204
|
Sema4, Sema4
|
5
|
11
|
98
|
56
|
12
|
0 |
0 |
182
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
4
|
2
|
40
|
39
|
8
|
0 |
0 |
93
|
Mendelics
|
4
|
2
|
57
|
16
|
9
|
0 |
0 |
88
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
5
|
0 |
50
|
22
|
5
|
0 |
0 |
82
|
Preventiongenetics, part of Exact Sciences
|
2
|
0 |
32
|
9
|
18
|
0 |
0 |
61
|
Counsyl
|
2
|
3
|
35
|
14
|
6
|
0 |
0 |
60
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
37
|
11
|
9
|
0 |
0 |
56
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
|
2
|
0 |
9
|
16
|
24
|
0 |
0 |
51
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
2
|
0 |
15
|
5
|
17
|
0 |
0 |
39
|
Fulgent Genetics, Fulgent Genetics
|
5
|
1
|
25
|
3
|
3
|
0 |
0 |
37
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
0 |
32
|
0 |
0 |
0 |
33
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
16
|
14
|
1
|
0 |
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
5
|
4
|
10
|
8
|
4
|
0 |
0 |
31
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
11
|
6
|
7
|
0 |
0 |
25
|
Revvity Omics, Revvity Omics
|
7
|
6
|
12
|
0 |
0 |
0 |
0 |
25
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
4
|
3
|
15
|
2
|
0 |
0 |
0 |
24
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
2
|
5
|
14
|
0 |
0 |
22
|
MGZ Medical Genetics Center
|
2
|
3
|
14
|
0 |
0 |
0 |
0 |
19
|
Laboratory for Genotyping Development, RIKEN
|
19
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
GeneKor MSA
|
1
|
1
|
13
|
0 |
0 |
0 |
0 |
15
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
0 |
7
|
3
|
4
|
0 |
0 |
14
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
2
|
11
|
0 |
0 |
0 |
0 |
13
|
Cancer Genomics Group, Japanese Foundation For Cancer Research
|
2
|
2
|
7
|
1
|
0 |
0 |
0 |
12
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
12
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
0 |
5
|
1
|
2
|
0 |
0 |
11
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
4
|
0 |
0 |
5
|
0 |
0 |
9
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
5
|
0 |
1
|
0 |
0 |
8
|
BRCAlab, Lund University
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
King Laboratory, University of Washington
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
2
|
2
|
0 |
0 |
5
|
Lab. Molecular Oncology, VUB, Free University of Brussels
|
2
|
0 |
2
|
1
|
0 |
0 |
0 |
5
|
Cancer Genetics Service, National Cancer Centre Singapore
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
5
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
2
|
0 |
0 |
4
|
CZECANCA consortium
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Vantari Genetics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Yang An-Suei Laboratory, Academia Sinica
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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