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 |
risk factor |
not provided |
total |
1450
|
335
|
2264
|
663
|
88
|
1
|
4
|
4652
|
Gene and significance breakdown #
Total genes and gene combinations: 22
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
NF1
|
1394
|
329
|
2223
|
656
|
88
|
1
|
4
|
4542
|
LOC111811965, NF1
|
6
|
4
|
37
|
5
|
0 |
0 |
0 |
52
|
EVI2A, EVI2B, NF1, OMG
|
9
|
2
|
1
|
0 |
0 |
0 |
0 |
12
|
LOC108281182, NF1
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG
|
4
|
0 |
2
|
0 |
0 |
0 |
0 |
6
|
LOC108281181, NF1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
LOC108281180, NF1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
LOC108281169, LOC108281170, NF1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, NF1, OMG
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EVI2A, EVI2B, LOC108281181, LOC108281182, NF1, OMG
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EVI2A, EVI2B, LOC108281182, NF1, OMG
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC108281169, LOC108281170, LOC108281180, LOC111811965, NF1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
LOC108281170, LOC108281180, NF1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EVI2A, EVI2B, LOC108281181, NF1, OMG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EVI2A, EVI2B, NF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EVI2A, NF1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EVI2B, NF1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EVI2B, NF1, OMG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108281169, LOC108281170, LOC108281180, NF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108281169, LOC111811965, NF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108281180, LOC108281181, NF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NF1, OMG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
1080
|
163
|
2071
|
622
|
67
|
0 |
0 |
4003
|
Center for Human Genetics, Inc,Center for Human Genetics, Inc
|
104
|
111
|
40
|
8
|
0 |
0 |
0 |
263
|
Medical Genomics Laboratory,Department of Genetics UAB
|
187
|
0 |
0 |
0 |
0 |
0 |
0 |
187
|
Medical Genetics, University of Parma
|
108
|
28
|
40
|
0 |
0 |
0 |
0 |
176
|
Illumina Clinical Services Laboratory,Illumina
|
2
|
0 |
108
|
25
|
29
|
0 |
0 |
164
|
Mendelics
|
31
|
8
|
46
|
17
|
6
|
0 |
0 |
108
|
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
|
50
|
0 |
6
|
1
|
0 |
0 |
0 |
57
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
20
|
4
|
10
|
0 |
2
|
0 |
0 |
36
|
OMIM
|
34
|
0 |
0 |
0 |
0 |
0 |
0 |
34
|
Institute of Human Genetics, University of Leipzig Medical Center
|
10
|
4
|
2
|
0 |
0 |
0 |
0 |
16
|
Integrated Genetics/Laboratory Corporation of America
|
9
|
5
|
0 |
0 |
0 |
0 |
0 |
14
|
Division of Human Genetics,Medical University Innsbruck
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
8
|
1
|
1
|
0 |
0 |
0 |
0 |
10
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
2
|
8
|
0 |
0 |
0 |
0 |
0 |
10
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
7
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Medical Molecular Genetics Department, National Research Center
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics,Johns Hopkins University
|
1
|
0 |
2
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics,Klinikum rechts der Isar
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Department of Research and Development,Institute Hermes Pardini
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Swedish Neurofibromatosis Center,Swedish Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory,University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics,Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network,NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Carson lab,Ohio State University Comprehensive Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Fan Lab,Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Coyote Medical Laboratory (Beijing),Coyote
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Neuropathology,University Medical Center Hamburg-Eppendorf
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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