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 |
36
|
13
|
256
|
206
|
80
|
519
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
18
|
1
|
100
|
103
|
29
|
251
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
88
|
21
|
35
|
145
|
Ambry Genetics
|
1
|
0 |
36
|
60
|
2
|
99
|
GeneDx
|
5
|
3
|
11
|
32
|
29
|
80
|
PreventionGenetics, part of Exact Sciences
|
2
|
0 |
17
|
37
|
9
|
65
|
CeGaT Center for Human Genetics Tuebingen
|
5
|
1
|
17
|
13
|
6
|
42
|
Athena Diagnostics Inc
|
3
|
0 |
7
|
3
|
9
|
22
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
12
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
9
|
3
|
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
5
|
5
|
11
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
2
|
4
|
7
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
4
|
3
|
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
1
|
0 |
4
|
0 |
0 |
5
|
Mendelics
|
0 |
1
|
2
|
0 |
2
|
5
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
4
|
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
1
|
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
2
|
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
2
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
1
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Neurology Department, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Research, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
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