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 |
|
25
|
8
|
65
|
3
|
5
|
1
|
106
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
TMC1
|
25
|
7
|
64
|
3
|
5
|
1
|
104
|
|
OTOA
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
48
|
3
|
5
|
0 |
57
|
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
3billion
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
King Laboratory, University of Washington
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Hereditary Research Laboratory, Bethlehem University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Precision Medicine Center, Zhengzhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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