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 |
526
|
272
|
2427
|
1486
|
696
|
1
|
15
|
4387
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
269
|
112
|
1782
|
841
|
45
|
0 |
0 |
3049
|
Ambry Genetics
|
203
|
69
|
1295
|
801
|
16
|
0 |
0 |
2384
|
Color Diagnostics, LLC DBA Color Health
|
72
|
21
|
698
|
378
|
22
|
0 |
0 |
1191
|
Myriad Genetics, Inc.
|
287
|
58
|
16
|
199
|
593
|
0 |
0 |
1153
|
GeneDx
|
21
|
38
|
412
|
142
|
104
|
0 |
0 |
717
|
Baylor Genetics
|
26
|
58
|
256
|
0 |
0 |
0 |
0 |
340
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
17
|
6
|
175
|
39
|
27
|
0 |
0 |
264
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
17
|
10
|
144
|
68
|
12
|
0 |
0 |
251
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
19
|
3
|
148
|
62
|
7
|
0 |
0 |
239
|
Sema4, Sema4
|
5
|
11
|
98
|
56
|
12
|
0 |
0 |
182
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
6
|
3
|
52
|
56
|
10
|
0 |
0 |
127
|
PreventionGenetics, part of Exact Sciences
|
4
|
1
|
52
|
51
|
18
|
0 |
0 |
126
|
Mendelics
|
4
|
2
|
56
|
22
|
9
|
0 |
0 |
93
|
Fulgent Genetics, Fulgent Genetics
|
8
|
2
|
54
|
3
|
3
|
0 |
0 |
70
|
Counsyl
|
2
|
3
|
35
|
14
|
6
|
0 |
0 |
60
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
36
|
11
|
9
|
0 |
0 |
55
|
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
|
3
|
0 |
22
|
5
|
19
|
0 |
0 |
49
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
12
|
32
|
0 |
0 |
47
|
CeGaT Center for Human Genetics Tuebingen
|
6
|
6
|
10
|
21
|
3
|
0 |
0 |
46
|
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
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
5
|
6
|
15
|
0 |
0 |
27
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
1
|
1
|
14
|
6
|
4
|
0 |
0 |
26
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
11
|
6
|
7
|
0 |
0 |
25
|
Revvity Omics, Revvity
|
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
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
2
|
17
|
0 |
0 |
0 |
0 |
20
|
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
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
|
1
|
5
|
4
|
6
|
0 |
0 |
0 |
16
|
GeneKor MSA
|
1
|
1
|
13
|
0 |
0 |
0 |
0 |
15
|
Cancer Genomics Group, Japanese Foundation For Cancer Research
|
2
|
3
|
7
|
1
|
0 |
0 |
0 |
13
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
1
|
4
|
1
|
2
|
0 |
0 |
12
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
12
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
2
|
4
|
4
|
0 |
0 |
0 |
10
|
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
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
6
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
5
|
0 |
1
|
0 |
0 |
0 |
0 |
6
|
King Laboratory, University of Washington
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
4
|
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
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
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
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
3
|
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
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
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
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
1
|
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
|
Genomics, Clalit Research Institute, Clalit Health Care
|
0 |
1
|
0 |
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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