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 |
43
|
25
|
427
|
153
|
112
|
640
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
6
|
1
|
170
|
90
|
30
|
297
|
Illumina Clinical Services Laboratory,Illumina
|
1
|
0 |
141
|
47
|
59
|
200
|
Athena Diagnostics Inc
|
5
|
11
|
105
|
20
|
54
|
195
|
CeGaT Praxis fuer Humangenetik Tuebingen
|
2
|
2
|
32
|
3
|
0 |
39
|
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
|
0 |
0 |
14
|
4
|
17
|
35
|
PreventionGenetics,PreventionGenetics
|
0 |
0 |
0 |
6
|
25
|
31
|
GeneDx
|
6
|
2
|
8
|
1
|
3
|
20
|
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
|
2
|
0 |
4
|
0 |
14
|
20
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
14
|
Genetic Services Laboratory,University of Chicago
|
1
|
1
|
0 |
8
|
0 |
10
|
Inherited Neuropathy Consortium
|
0 |
0 |
10
|
0 |
0 |
10
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
0 |
0 |
0 |
8
|
8
|
Ambry Genetics
|
3
|
1
|
4
|
0 |
0 |
8
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
8
|
0 |
0 |
8
|
Northcott Neuroscience Laboratory, ANZAC Research Institute
|
1
|
1
|
0 |
2
|
4
|
8
|
Mendelics
|
1
|
2
|
0 |
0 |
3
|
6
|
Baylor Genetics
|
2
|
1
|
1
|
0 |
0 |
4
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
1
|
1
|
4
|
ALS/MND Lab,University of Malta
|
0 |
1
|
3
|
0 |
0 |
4
|
Institute of Human Genetics,Cologne University
|
1
|
0 |
2
|
0 |
0 |
3
|
Institute of Human Genetics,Klinikum rechts der Isar
|
3
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
3
|
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde
|
0 |
0 |
3
|
0 |
0 |
3
|
Dept. of Medical Genetics, Telemark Hospital Trust
|
0 |
0 |
3
|
0 |
0 |
3
|
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia
|
0 |
1
|
2
|
0 |
0 |
3
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University
|
0 |
0 |
2
|
1
|
0 |
3
|
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
2
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
1
|
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