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 |
total |
25
|
19
|
85
|
8
|
15
|
141
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TMPRSS3
|
25
|
19
|
84
|
8
|
15
|
140
|
GJB3
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
3
|
0 |
71
|
7
|
8
|
89
|
Fulgent Genetics, Fulgent Genetics
|
3
|
2
|
5
|
0 |
2
|
12
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
6
|
7
|
King Laboratory, University of Washington
|
1
|
5
|
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
0 |
0 |
0 |
0 |
6
|
3billion
|
3
|
1
|
2
|
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
3
|
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
1
|
0 |
0 |
4
|
5
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
0 |
4
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
4
|
0 |
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
1
|
0 |
0 |
4
|
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital
|
4
|
0 |
0 |
0 |
0 |
4
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
4
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
2
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
1
|
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
1
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Hereditary Research Laboratory, Bethlehem University
|
1
|
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
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