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 |
230
|
224
|
371
|
20
|
43
|
5
|
829
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
3
|
4
|
255
|
11
|
24
|
0 |
297
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
62
|
92
|
0 |
0 |
0 |
0 |
154
|
Molecular Diagnosis Center for Deafness
|
54
|
21
|
29
|
0 |
1
|
0 |
105
|
Fulgent Genetics, Fulgent Genetics
|
14
|
48
|
23
|
0 |
1
|
0 |
86
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
9
|
5
|
19
|
0 |
34
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
12
|
6
|
8
|
0 |
0 |
0 |
26
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
19
|
1
|
0 |
0 |
0 |
0 |
20
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
3billion, Medical Genetics
|
6
|
5
|
7
|
0 |
0 |
0 |
18
|
Revvity Omics, Revvity
|
4
|
2
|
10
|
1
|
0 |
0 |
17
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
5
|
0 |
0 |
0 |
0 |
17
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
10
|
1
|
0 |
0 |
0 |
15
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
4
|
7
|
4
|
0 |
0 |
0 |
15
|
Baylor Genetics
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
5
|
6
|
2
|
0 |
0 |
0 |
13
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
4
|
1
|
5
|
0 |
0 |
1
|
11
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
9
|
1
|
1
|
0 |
0 |
0 |
11
|
Center for Statistical Genetics, Columbia University
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
7
|
0 |
0 |
0 |
9
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
2
|
6
|
0 |
0 |
0 |
9
|
King Laboratory, University of Washington
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Mendelics
|
2
|
0 |
2
|
2
|
0 |
0 |
6
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Hereditary Research Laboratory, Bethlehem University
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Wonkam Laboratory, Johns Hopkins University
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Medical Molecular Genetics Department, National Research Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Hereditary Hearing Loss Research Unit, University of Madras
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics Laboratory, Department of Biology, Semnan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Santos-Cortez Lab, University of Colorado School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UAEU Genomics Laboratory, United Arab Emirates University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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