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 |
|
20
|
8
|
1661
|
725
|
193
|
48
|
2471
|
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
|
15
|
2
|
1371
|
638
|
116
|
0 |
2142
|
|
Ambry Genetics
|
1
|
0 |
423
|
28
|
0 |
0 |
452
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
63
|
18
|
137
|
0 |
218
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
37
|
54
|
32
|
0 |
123
|
|
GeneDx
|
0 |
0 |
31
|
1
|
28
|
0 |
60
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
5
|
27
|
8
|
0 |
40
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
9
|
28
|
0 |
0 |
37
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
36
|
36
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
16
|
2
|
15
|
0 |
33
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
15
|
2
|
0 |
19
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
5
|
11
|
0 |
17
|
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
2
|
1
|
0 |
7
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
6
|
0 |
7
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
1
|
2
|
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
2
|
0 |
0 |
6
|
|
Blueprint Genetics
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
OLLIN Analises Genomicas, OLLIN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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