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 |
|
16
|
16
|
133
|
22
|
41
|
1
|
216
|
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
|
2
|
1
|
98
|
10
|
31
|
0 |
142
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
3
|
20
|
2
|
1
|
0 |
30
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
11
|
10
|
0 |
24
|
|
Revvity Omics, Revvity
|
4
|
1
|
10
|
0 |
0 |
0 |
15
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
3billion, Medical Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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