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 |
146
|
210
|
388
|
49
|
51
|
1
|
779
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Submitter and significance breakdown #
Illumina Laboratory Services, Illumina
|
0 |
0 |
208
|
29
|
14
|
0 |
251
|
Counsyl
|
27
|
87
|
116
|
13
|
0 |
0 |
243
|
Fulgent Genetics, Fulgent Genetics
|
55
|
68
|
57
|
5
|
4
|
0 |
189
|
Genome-Nilou Lab
|
2
|
1
|
24
|
4
|
42
|
0 |
73
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
27
|
35
|
0 |
0 |
0 |
0 |
62
|
Mendelics
|
8
|
2
|
5
|
0 |
5
|
0 |
20
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
6
|
3
|
7
|
0 |
0 |
0 |
16
|
King Laboratory, University of Washington
|
8
|
7
|
0 |
0 |
0 |
0 |
15
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
1
|
4
|
0 |
0 |
0 |
11
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
7
|
0 |
3
|
0 |
0 |
0 |
10
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
Hereditary Research Laboratory, Bethlehem University
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Medical Molecular Genetics Department, National Research Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion, Medical Genetics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Dr.Nikuei Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Wonkam Laboratory, Johns Hopkins University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hereditary Risk Evalutation Team, Medical School Hannover
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
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
|
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