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 |
409
|
570
|
2666
|
375
|
410
|
1
|
4
|
4186
|
Gene and significance breakdown #
Total genes and gene combinations: 33
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
USH2A
|
187
|
224
|
517
|
97
|
96
|
0 |
0 |
1038
|
MYO7A
|
73
|
168
|
455
|
59
|
47
|
0 |
2
|
743
|
CDH23
|
22
|
10
|
430
|
53
|
70
|
0 |
2
|
558
|
PCDH15
|
18
|
87
|
382
|
41
|
33
|
0 |
0 |
539
|
ADGRV1
|
41
|
24
|
333
|
34
|
67
|
0 |
0 |
486
|
USH1C
|
19
|
34
|
154
|
22
|
21
|
0 |
0 |
237
|
WHRN
|
4
|
0 |
101
|
8
|
24
|
0 |
0 |
136
|
HARS1
|
2
|
1
|
93
|
13
|
10
|
0 |
0 |
117
|
CLRN1
|
17
|
16
|
63
|
12
|
8
|
0 |
0 |
110
|
USH1G
|
9
|
1
|
50
|
12
|
7
|
0 |
0 |
79
|
C10orf105, CDH23
|
5
|
1
|
49
|
10
|
9
|
0 |
0 |
69
|
CDH23, PSAP
|
0 |
0 |
23
|
11
|
12
|
0 |
0 |
34
|
LOC105378311, PCDH15
|
1
|
3
|
3
|
0 |
1
|
0 |
0 |
8
|
OTOP2, USH1G
|
1
|
1
|
5
|
0 |
0 |
0 |
0 |
7
|
CDH23, LOC111982869
|
1
|
0 |
4
|
1
|
1
|
0 |
0 |
6
|
PDZD7
|
1
|
0 |
1
|
0 |
0 |
1
|
0 |
3
|
CDH23, VSIR
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
PROM1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
ARSG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BBS1, ZDHHC24
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CEP250
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CIB2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CNKSR1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CRX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CRYGC, LOC100507443
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ESPN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FRAS1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GUCA1A, LOC118142757
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCTD3, USH2A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC105378311, MIR548F1, PCDH15
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MT-TS2
|
1
|
0 |
0 |
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 |
Illumina Clinical Services Laboratory,Illumina
|
1
|
1
|
1268
|
165
|
259
|
0 |
0 |
1685
|
Natera, Inc.
|
59
|
16
|
797
|
127
|
218
|
0 |
0 |
1217
|
Counsyl
|
90
|
365
|
601
|
73
|
2
|
0 |
0 |
1131
|
Invitae
|
1
|
0 |
91
|
13
|
9
|
0 |
0 |
114
|
Fulgent Genetics,Fulgent Genetics
|
29
|
4
|
64
|
0 |
0 |
0 |
0 |
97
|
Mendelics
|
20
|
13
|
7
|
1
|
47
|
0 |
0 |
88
|
OMIM
|
76
|
0 |
3
|
0 |
0 |
1
|
0 |
80
|
ClinGen Hearing Loss Variant Curation Expert Panel
|
10
|
19
|
28
|
9
|
7
|
0 |
0 |
73
|
Myriad Women's Health, Inc.
|
5
|
51
|
0 |
0 |
0 |
0 |
0 |
56
|
Sharon lab,Hadassah-Hebrew University Medical Center
|
43
|
10
|
0 |
0 |
0 |
0 |
0 |
53
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
8
|
35
|
8
|
1
|
0 |
0 |
0 |
52
|
Molecular Genetics Laboratory,Institute for Ophthalmic Research
|
37
|
0 |
0 |
0 |
0 |
0 |
0 |
37
|
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
|
29
|
8
|
0 |
0 |
0 |
0 |
0 |
37
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
10
|
5
|
18
|
1
|
0 |
0 |
0 |
34
|
GeneReviews
|
22
|
9
|
0 |
0 |
1
|
0 |
0 |
32
|
Baylor Genetics
|
20
|
10
|
0 |
0 |
0 |
0 |
0 |
30
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
18
|
8
|
0 |
0 |
0 |
0 |
0 |
26
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
9
|
5
|
6
|
0 |
0 |
0 |
0 |
20
|
Integrated Genetics/Laboratory Corporation of America
|
14
|
4
|
0 |
0 |
0 |
0 |
0 |
18
|
Human Genetics - Radboudumc,Radboudumc
|
8
|
2
|
5
|
0 |
0 |
0 |
0 |
15
|
National Institute on Deafness and Communication Disorders,National Institutes of Health
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
5
|
5
|
0 |
0 |
0 |
0 |
11
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
1
|
1
|
8
|
0 |
0 |
0 |
0 |
10
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
6
|
3
|
0 |
0 |
0 |
0 |
0 |
9
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital
|
7
|
2
|
0 |
0 |
0 |
0 |
0 |
9
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
8
|
Molecular Genetics Laboratory; Baylor College of Medicine
|
0 |
1
|
6
|
0 |
0 |
0 |
0 |
7
|
Broad Institute Rare Disease Group,Broad Institute
|
2
|
0 |
1
|
2
|
2
|
0 |
0 |
7
|
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
3
|
2
|
0 |
0 |
0 |
0 |
6
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
6
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
4
|
0 |
0 |
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
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Centre de Biotechnologie de Sfax,Université de Sfax
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Hereditary Research Laboratory,Bethlehem University
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Laboratory of Prof. Karen Avraham,Tel Aviv University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Rui Chen Lab,Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Biochemistry Laboratory of CDMU,Chengde Medical University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
The Cell Therapy Center,The University of Jordan
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory,University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics laboratory, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FirmaLab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sema4, Sema4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire,Hôpital Robert Debré
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Ophthalmic Research,University Tuebingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College,Manipal University
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics,Sultan Qaboos University Hospital, Oman
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development,BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of biochemistry and genetics, Arak University of Medical sciences
|
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
professional.