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 |
|
22
|
22
|
113
|
8
|
30
|
1
|
191
|
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
|
0 |
0 |
90
|
6
|
30
|
0 |
126
|
|
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine
|
1
|
8
|
0 |
0 |
0 |
0 |
9
|
|
Baylor Genetics
|
1
|
0 |
6
|
0 |
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
3
|
2
|
0 |
0 |
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
3billion
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Medical Genetics, University of Parma
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Prenatal Diagnosis Center, Guizhou Provincial People's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics, Medical University of Vienna
|
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
|
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