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 |
|
17
|
12
|
10
|
0 |
8
|
1
|
46
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
KIAA0586
|
17
|
12
|
10
|
8
|
1
|
46
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
UW Hindbrain Malformation Research Program, University of Washington
|
9
|
0 |
0 |
0 |
0 |
9
|
|
Baylor Genetics
|
1
|
1
|
4
|
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
6
|
0 |
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
1
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Mendelics
|
1
|
0 |
0 |
2
|
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
1
|
0 |
0 |
3
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Klinisk genetik och genomik Research, Gothenburg University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
1
|
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
1
|
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