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 |
|---|---|---|---|---|---|
| 6 | 2 | 77 | 44 | 44 | 162 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GSN | 6 | 2 | 77 | 44 | 44 | 162 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 49 | 36 | 0 | 86 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 25 | 8 | 42 | 75 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 2 | 0 | 0 | 0 | 0 | 2 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 1 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Ophthalmology, Flinders Medical Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Traditional Chinese Medicine, Fujian Provincial Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Amyloidosis Center, Boston University School of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |