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 |
|
8
|
8
|
4
|
0 |
0 |
20
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
CCDST, FLG
|
8
|
7
|
4
|
19
|
|
FLG
|
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
3
|
5
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
2
|
1
|
5
|
|
Baylor Genetics
|
1
|
1
|
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
2
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
2
|
0 |
0 |
2
|
|
3billion
|
0 |
2
|
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
1
|
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
1
|
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