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 |
49
|
26
|
45
|
23
|
21
|
14
|
151
|
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 |
GJB2
|
49
|
26
|
44
|
23
|
21
|
14
|
150
|
GJB4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
27
|
17
|
20
|
0 |
64
|
Fulgent Genetics, Fulgent Genetics
|
33
|
4
|
14
|
6
|
3
|
0 |
60
|
Counsyl
|
8
|
17
|
0 |
0 |
0 |
0 |
25
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Core Molecular Diagnostic Lab, McGill University Health Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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