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 |
pathogenic, low penetrance |
not provided |
total |
1803
|
366
|
2010
|
3157
|
427
|
1
|
8
|
7327
|
Gene and significance breakdown #
Total genes and gene combinations: 19
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
DMD
|
1725
|
356
|
2002
|
3157
|
426
|
1
|
8
|
7231
|
DMD, LOC129391296
|
31
|
4
|
1
|
0 |
0 |
0 |
0 |
36
|
DMD, MIR3915, MIR548F5
|
23
|
0 |
2
|
0 |
0 |
0 |
0 |
25
|
DMD, MIR548F5
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
DMD, LOC129391296, LOC129391297
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
DMD, MIR3915
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
5
|
DMD, LOC121627963, LOC125446277, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
DMD, LOC129391297
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DMD, FTHL17
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DMD, LOC121627963, LOC130068086, LOC130068087, LOC130068088, LOC130068089
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DMD, LOC129391296, LOC129391297, MIR3915, MIR548F5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DMD, LOC129391297, MIR3915, MIR548F5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DMD, LOC130068083
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SNTA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
Invitae
|
1518
|
197
|
1770
|
2926
|
393
|
1
|
0 |
6805
|
Natera, Inc.
|
31
|
8
|
568
|
482
|
66
|
0 |
0 |
1155
|
Mendelics
|
188
|
13
|
9
|
17
|
6
|
0 |
0 |
233
|
Fulgent Genetics, Fulgent Genetics
|
8
|
2
|
104
|
25
|
6
|
0 |
0 |
145
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
61
|
31
|
0 |
0 |
0 |
0 |
0 |
92
|
Athena Diagnostics Inc
|
62
|
0 |
0 |
0 |
7
|
0 |
0 |
69
|
OMIM
|
59
|
0 |
2
|
0 |
0 |
0 |
0 |
61
|
Myriad Genetics, Inc.
|
0 |
61
|
0 |
0 |
0 |
0 |
0 |
61
|
3billion
|
12
|
11
|
7
|
0 |
0 |
0 |
0 |
30
|
Genome-Nilou Lab
|
2
|
0 |
7
|
2
|
15
|
0 |
0 |
26
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
7
|
8
|
3
|
0 |
0 |
0 |
0 |
18
|
Baylor Genetics
|
7
|
6
|
1
|
1
|
0 |
0 |
0 |
15
|
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres
|
11
|
3
|
0 |
0 |
0 |
0 |
0 |
14
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
3
|
5
|
0 |
1
|
0 |
0 |
11
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
4
|
2
|
0 |
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
2
|
3
|
4
|
0 |
0 |
0 |
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
8
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
6
|
0 |
0 |
8
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
7
|
Counsyl
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
5
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Garshasbi Lab, Tarbiat Modares University
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Pars Genome Lab
|
0 |
0 |
2
|
0 |
3
|
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
1
|
0 |
0 |
3
|
Institute of Human Genetics, University of Wuerzburg
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Tehran Medical Genetics Laboratory
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Coyote Medical Laboratory (Beijing), Coyote
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hakim Medical Genetics Center Laboratory, Neyshabur University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Savagenome Genetic Health Clinic, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centro de Registro e Investigacion sobre Anomalias Congenitas, Hospital Civil de Guadalajara Dr. Juan I. Menchaca
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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