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 |
|
7
|
6
|
17
|
1
|
4
|
1
|
34
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
OPA1
|
6
|
6
|
16
|
1
|
4
|
1
|
32
|
|
LOC126806913, OPA1
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
4
|
1
|
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
3billion
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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