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 |
total |
10
|
6
|
17
|
0 |
0 |
32
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
CNKSR2
|
10
|
6
|
17
|
32
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Revvity Omics, Revvity
|
0 |
1
|
4
|
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
0 |
1
|
4
|
Baylor Genetics
|
0 |
0 |
3
|
3
|
New York Genome Center
|
0 |
1
|
2
|
3
|
OMIM
|
2
|
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
2
|
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
2
|
3billion
|
1
|
0 |
1
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
1
|
HSP Biomedical Diagnostics Department, Hospital San Pedro
|
0 |
1
|
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
1
|
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine
|
0 |
1
|
0 |
1
|
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