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 |
321
|
302
|
950
|
997
|
72
|
12
|
2461
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
AGL
|
321
|
302
|
950
|
997
|
72
|
12
|
2461
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
282
|
42
|
808
|
975
|
54
|
0 |
2161
|
Genome-Nilou Lab
|
67
|
39
|
166
|
54
|
42
|
0 |
368
|
Natera, Inc.
|
29
|
4
|
265
|
12
|
18
|
0 |
328
|
Baylor Genetics
|
56
|
82
|
12
|
0 |
0 |
0 |
150
|
Counsyl
|
11
|
89
|
21
|
6
|
0 |
0 |
127
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
95
|
6
|
24
|
0 |
127
|
Fulgent Genetics, Fulgent Genetics
|
17
|
17
|
74
|
4
|
2
|
0 |
114
|
Myriad Genetics, Inc.
|
2
|
73
|
0 |
0 |
0 |
0 |
75
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
28
|
9
|
0 |
0 |
0 |
0 |
37
|
Revvity Omics, Revvity Omics
|
16
|
6
|
11
|
0 |
0 |
0 |
33
|
Centre for Human Genetics
|
13
|
7
|
0 |
0 |
1
|
0 |
21
|
Mendelics
|
10
|
2
|
2
|
0 |
0 |
0 |
14
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
5
|
5
|
0 |
0 |
0 |
13
|
3billion
|
6
|
3
|
3
|
0 |
0 |
0 |
12
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
Centogene AG - the Rare Disease Company
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
3
|
1
|
1
|
1
|
0 |
0 |
6
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Phosphorus, Inc.
|
0 |
0 |
0 |
1
|
4
|
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
DASA
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genesis Genoma Lab, Genesis Genoma Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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