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 |
33
|
23
|
296
|
270
|
102
|
8
|
670
|
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
|
22
|
5
|
132
|
190
|
36
|
0 |
385
|
GeneDx
|
3
|
2
|
81
|
87
|
54
|
0 |
227
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
90
|
10
|
38
|
0 |
138
|
Ambry Genetics
|
0 |
1
|
61
|
2
|
0 |
0 |
64
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
4
|
12
|
32
|
0 |
48
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
3
|
22
|
7
|
0 |
32
|
Eurofins Ntd Llc (ga)
|
4
|
0 |
15
|
1
|
11
|
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
11
|
16
|
2
|
0 |
29
|
Fulgent Genetics, Fulgent Genetics
|
4
|
9
|
13
|
1
|
0 |
0 |
27
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
10
|
1
|
0 |
0 |
13
|
Athena Diagnostics
|
0 |
0 |
5
|
3
|
4
|
0 |
12
|
GeneReviews
|
1
|
0 |
0 |
0 |
1
|
8
|
10
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
5
|
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
4
|
2
|
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
2
|
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Division of Biology and Genetics, University of Brescia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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