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 |
60
|
66
|
133
|
36
|
14
|
5
|
279
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
31
|
57
|
7
|
0 |
0 |
0 |
95
|
Natera, Inc.
|
13
|
1
|
61
|
12
|
7
|
0 |
94
|
Fulgent Genetics, Fulgent Genetics
|
8
|
4
|
40
|
17
|
0 |
0 |
69
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
39
|
6
|
7
|
0 |
52
|
Leiden Open Variation Database
|
41
|
1
|
7
|
0 |
0 |
0 |
49
|
Genome-Nilou Lab
|
0 |
2
|
3
|
4
|
4
|
0 |
13
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
11
|
0 |
0 |
0 |
12
|
Revvity Omics, Revvity
|
3
|
3
|
5
|
0 |
0 |
0 |
11
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
1
|
7
|
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Human Genetics Section, Sidra Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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