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 |
total |
55
|
36
|
526
|
486
|
51
|
1091
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
40
|
20
|
444
|
421
|
24
|
949
|
PreventionGenetics, part of Exact Sciences
|
0 |
3
|
78
|
72
|
4
|
157
|
Fulgent Genetics, Fulgent Genetics
|
2
|
4
|
95
|
44
|
0 |
145
|
GeneDx
|
0 |
4
|
55
|
43
|
36
|
138
|
Ambry Genetics
|
1
|
1
|
50
|
1
|
0 |
53
|
Dept Of Ophthalmology, Nagoya University
|
1
|
1
|
27
|
6
|
0 |
35
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
11
|
3
|
4
|
18
|
OMIM
|
14
|
0 |
2
|
0 |
0 |
15
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
10
|
1
|
12
|
Revvity Omics, Revvity
|
1
|
2
|
7
|
0 |
0 |
10
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
2
|
7
|
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
8
|
0 |
9
|
New York Genome Center
|
0 |
0 |
9
|
0 |
0 |
9
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
5
|
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
3
|
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
2
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
2
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
0 |
1
|
1
|
0 |
0 |
2
|
Blueprint Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
1
|
1
|
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
2
|
Department of Neurology, Kindai University
|
2
|
0 |
0 |
0 |
0 |
2
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
2
|
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
1
|
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
UW Hindbrain Malformation Research Program, University of Washington
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
0 |
1
|
0 |
0 |
1
|
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
1
|
Moosajee Lab, UCL Institute of Ophthalmology
|
0 |
0 |
1
|
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
1
|
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