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 |
40
|
32
|
289
|
253
|
76
|
634
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
27
|
16
|
217
|
194
|
24
|
478
|
GeneDx
|
2
|
2
|
20
|
35
|
64
|
123
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
59
|
5
|
12
|
70
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
19
|
16
|
35
|
Ambry Genetics
|
0 |
0 |
31
|
3
|
0 |
34
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
4
|
14
|
3
|
23
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
5
|
5
|
0 |
0 |
12
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
3
|
6
|
1
|
12
|
Eurofins Ntd Llc (ga)
|
1
|
1
|
6
|
2
|
1
|
11
|
UW Hindbrain Malformation Research Program, University of Washington
|
7
|
0 |
0 |
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
4
|
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
3
|
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
Revvity Omics, Revvity
|
2
|
0 |
1
|
0 |
0 |
3
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
3
|
0 |
0 |
0 |
3
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
2
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
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