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 |
4
|
4
|
13
|
8
|
6
|
35
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
1
|
4
|
3
|
9
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
5
|
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
1
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Revvity Omics, Revvity Omics
|
0 |
0 |
2
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
1
|
Pangenia Genomics, Pangenia Inc.
|
0 |
0 |
1
|
0 |
0 |
1
|
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