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 |
3
|
3
|
685
|
399
|
98
|
1
|
1137
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
0 |
581
|
371
|
57
|
0 |
1010
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
66
|
23
|
53
|
0 |
142
|
Ambry Genetics
|
0 |
0 |
42
|
1
|
0 |
0 |
43
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
16
|
9
|
0 |
27
|
GeneDx
|
0 |
0 |
3
|
2
|
17
|
0 |
22
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
8
|
6
|
4
|
0 |
20
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
11
|
1
|
3
|
0 |
15
|
Blueprint Genetics
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
6
|
1
|
0 |
9
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
2
|
5
|
0 |
8
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
DBGen Ocular Genomics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
OMIM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Research Institute, Tokyo Medical and Dental University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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