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 |
not provided |
total |
91
|
76
|
158
|
49
|
29
|
15
|
339
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GJB2
|
85
|
76
|
112
|
27
|
20
|
15
|
257
|
GJB6
|
3
|
0 |
39
|
19
|
9
|
0 |
69
|
GJB3
|
1
|
0 |
3
|
3
|
0 |
0 |
7
|
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CRYL1, GJB2, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, MIR4499
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CRYL1, GJB6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GJB2, GJB6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GJB4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Counsyl
|
14
|
53
|
44
|
1
|
0 |
0 |
112
|
Natera, Inc.
|
48
|
6
|
31
|
10
|
8
|
0 |
103
|
Fulgent Genetics, Fulgent Genetics
|
35
|
4
|
19
|
10
|
4
|
0 |
72
|
Illumina Laboratory Services, Illumina
|
9
|
3
|
33
|
15
|
12
|
0 |
72
|
Invitae
|
3
|
0 |
40
|
18
|
8
|
0 |
69
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
43
|
8
|
0 |
0 |
3
|
0 |
54
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
23
|
4
|
13
|
2
|
5
|
0 |
47
|
OMIM
|
24
|
0 |
0 |
0 |
0 |
0 |
24
|
Myriad Genetics, Inc.
|
15
|
1
|
6
|
0 |
0 |
0 |
22
|
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland
|
16
|
4
|
1
|
0 |
0 |
0 |
21
|
Baylor Genetics
|
15
|
2
|
4
|
0 |
0 |
0 |
20
|
GeneReviews
|
4
|
0 |
0 |
0 |
0 |
14
|
18
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
10
|
3
|
0 |
0 |
0 |
0 |
13
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
9
|
0 |
1
|
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
7
|
2
|
0 |
0 |
0 |
0 |
9
|
Mendelics
|
3
|
0 |
1
|
0 |
4
|
0 |
8
|
Genome-Nilou Lab
|
4
|
1
|
3
|
0 |
0 |
0 |
8
|
Pars Genome Lab
|
0 |
1
|
0 |
2
|
4
|
0 |
7
|
3billion
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Institut Pasteur du Maroc
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
King Laboratory, University of Washington
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Lifecell International Pvt. Ltd
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
DASA
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UAEU Genomics Laboratory, United Arab Emirates University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. Faghihi's Medical Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Wangler Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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