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 |
|
73
|
52
|
151
|
210
|
44
|
14
|
473
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
50
|
16
|
49
|
204
|
13
|
0 |
332
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
75
|
3
|
30
|
0 |
109
|
|
Natera, Inc.
|
7
|
3
|
43
|
7
|
8
|
0 |
68
|
|
Baylor Genetics
|
14
|
19
|
0 |
0 |
0 |
0 |
33
|
|
Baumgartner lab, University Children's Hospital Zurich
|
33
|
0 |
0 |
0 |
0 |
0 |
33
|
|
Counsyl
|
1
|
13
|
11
|
1
|
0 |
0 |
26
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
1
|
0 |
4
|
0 |
1
|
0 |
6
|
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Myriad Genetics, Inc.
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Shieh Lab, University of California, San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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