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 |
|
51
|
35
|
437
|
501
|
51
|
4
|
1004
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
40
|
15
|
359
|
481
|
45
|
0 |
940
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
79
|
11
|
21
|
0 |
112
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
8
|
31
|
7
|
1
|
0 |
49
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
11
|
2
|
0 |
0 |
14
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
6
|
4
|
0 |
10
|
|
Baylor Genetics
|
1
|
2
|
5
|
0 |
0 |
0 |
8
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
|
Solve-RD Consortium
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
3billion
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mendelics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, University Hospital Bordeaux
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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