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 |
|
20
|
11
|
82
|
12
|
11
|
2
|
129
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
1
|
3
|
78
|
8
|
9
|
0 |
99
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Mendelics
|
3
|
0 |
2
|
2
|
1
|
0 |
8
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
2
|
5
|
0 |
7
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Baylor Genetics
|
1
|
1
|
1
|
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
|
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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