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 |
366
|
407
|
1529
|
337
|
279
|
1
|
4
|
2723
|
Gene and significance breakdown #
Total genes and gene combinations: 19
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
USH2A
|
294
|
357
|
1000
|
273
|
168
|
0 |
2
|
1922
|
ADGRV1
|
44
|
31
|
386
|
47
|
77
|
0 |
1
|
565
|
WHRN
|
6
|
1
|
109
|
8
|
21
|
0 |
1
|
145
|
LOC122152296, USH2A
|
9
|
15
|
26
|
6
|
3
|
0 |
0 |
53
|
PDZD7
|
1
|
2
|
6
|
1
|
8
|
1
|
0 |
19
|
MYO7A
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
USH1C
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CDH23
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ADGRV1, LOC123497934, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADGRV1, LOC129389321
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDH23, LOC111982869
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CNKSR1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CRYGC, LOC100507443
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FRAS1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCTD3, USH2A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC122152296, LOC126806009, LOC132088648, USH2A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC122152296, LOC132088648, USH2A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SFTPC
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
WDR36
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Genome-Nilou Lab
|
119
|
187
|
470
|
182
|
151
|
0 |
0 |
1109
|
Natera, Inc.
|
101
|
19
|
535
|
102
|
91
|
0 |
0 |
848
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
513
|
51
|
106
|
0 |
0 |
672
|
Counsyl
|
60
|
159
|
211
|
31
|
0 |
0 |
0 |
461
|
Fulgent Genetics, Fulgent Genetics
|
41
|
17
|
155
|
46
|
23
|
0 |
0 |
282
|
Myriad Genetics, Inc.
|
7
|
72
|
17
|
0 |
0 |
0 |
0 |
96
|
Mendelics
|
23
|
11
|
6
|
1
|
26
|
0 |
0 |
67
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
32
|
0 |
0 |
0 |
0 |
0 |
0 |
32
|
Baylor Genetics
|
12
|
4
|
14
|
0 |
0 |
0 |
0 |
30
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
21
|
6
|
0 |
0 |
0 |
0 |
0 |
27
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
1
|
0 |
26
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
20
|
6
|
0 |
0 |
0 |
0 |
0 |
26
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
8
|
5
|
11
|
1
|
0 |
0 |
0 |
25
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
14
|
0 |
8
|
0 |
0 |
0 |
0 |
22
|
3billion
|
15
|
5
|
2
|
0 |
0 |
0 |
0 |
22
|
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
|
16
|
3
|
0 |
0 |
0 |
0 |
0 |
19
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
6
|
2
|
5
|
0 |
0 |
0 |
0 |
13
|
Institute of Human Genetics, University of Leipzig Medical Center
|
8
|
3
|
2
|
0 |
0 |
0 |
0 |
13
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
2
|
5
|
5
|
0 |
0 |
0 |
0 |
12
|
Genetics and Molecular Pathology, SA Pathology
|
5
|
2
|
4
|
0 |
0 |
0 |
0 |
11
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
2
|
7
|
0 |
0 |
0 |
0 |
10
|
DBGen Ocular Genomics
|
7
|
2
|
1
|
0 |
0 |
0 |
0 |
10
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
10
|
Genomics England Pilot Project, Genomics England
|
7
|
2
|
0 |
0 |
0 |
0 |
0 |
9
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
8
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
4
|
2
|
2
|
0 |
0 |
0 |
0 |
8
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
3
|
0 |
1
|
2
|
2
|
0 |
0 |
8
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
2
|
3
|
0 |
0 |
0 |
0 |
8
|
MGZ Medical Genetics Center
|
4
|
1
|
2
|
0 |
0 |
0 |
0 |
7
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
6
|
0 |
0 |
0 |
0 |
7
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
King Laboratory, University of Washington
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
6
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
4
|
0 |
2
|
0 |
0 |
0 |
0 |
6
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Goettingen
|
1
|
3
|
0 |
1
|
0 |
0 |
0 |
5
|
Pars Genome Lab
|
0 |
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Molecular Genetics Laboratory; Baylor College of Medicine
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
2
|
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Rui Chen Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hereditary Research Laboratory, Bethlehem University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
INGEBI, INGEBI / CONICET
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FirmaLab, FirmaLab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Sema4, Sema4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
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
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
UAEU Genomics Laboratory, United Arab Emirates University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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