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 |
|
15
|
6
|
9
|
0 |
6
|
3
|
39
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
PROM1
|
15
|
6
|
9
|
6
|
3
|
39
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
7
|
1
|
0 |
10
|
|
Mendelics
|
6
|
0 |
2
|
0 |
0 |
8
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
5
|
0 |
5
|
|
3billion
|
2
|
2
|
0 |
0 |
0 |
4
|
|
DBGen Ocular Genomics
|
3
|
1
|
0 |
0 |
0 |
4
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
3
|
3
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Erciyes University Faculty of Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
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