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 |
other |
total |
50
|
43
|
355
|
287
|
103
|
4
|
3
|
742
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
total |
Invitae
|
24
|
10
|
205
|
197
|
36
|
0 |
0 |
472
|
GeneDx
|
5
|
3
|
11
|
58
|
80
|
0 |
0 |
157
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
79
|
13
|
18
|
0 |
0 |
110
|
PreventionGenetics, part of Exact Sciences
|
0 |
7
|
28
|
35
|
0 |
0 |
0 |
70
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
14
|
15
|
11
|
0 |
0 |
42
|
Ambry Genetics
|
0 |
0 |
21
|
3
|
0 |
0 |
0 |
24
|
Eurofins Ntd Llc (ga)
|
3
|
0 |
15
|
3
|
3
|
0 |
0 |
24
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
1
|
0 |
11
|
4
|
3
|
0 |
0 |
19
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
5
|
12
|
0 |
0 |
0 |
19
|
Centre for Genomic and Experimental Medicine, University of Edinburgh
|
0 |
4
|
6
|
5
|
0 |
0 |
3
|
18
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
4
|
0 |
13
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Dan Cohn Lab, University Of California Los Angeles
|
10
|
1
|
1
|
0 |
0 |
0 |
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
8
|
0 |
0 |
11
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
4
|
2
|
2
|
0 |
0 |
8
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
8
|
0 |
0 |
8
|
Revvity Omics, Revvity
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
2
|
1
|
0 |
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Blueprint Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UM ALS/MND Lab, University Of Malta
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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