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 |
|
35
|
16
|
19
|
1
|
4
|
72
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
ECEL1
|
35
|
16
|
19
|
1
|
4
|
72
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Revvity Omics, Revvity
|
0 |
0 |
9
|
0 |
0 |
9
|
|
University of Washington Center for Mendelian Genomics, University of Washington
|
7
|
0 |
0 |
0 |
0 |
7
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
3
|
2
|
2
|
0 |
0 |
7
|
|
Genetic Services Laboratory, University of Chicago
|
4
|
2
|
0 |
0 |
0 |
6
|
|
3billion
|
3
|
0 |
2
|
0 |
0 |
5
|
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, Cologne University
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
1
|
|
CHU Sainte-Justine Research Center, University of Montreal
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Coban-Akdemir Lab, University of Texas Health Science Center
|
0 |
0 |
1
|
0 |
0 |
1
|
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