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 |
|---|---|---|---|---|---|---|
| 50 | 34 | 17 | 6 | 3 | 3 | 108 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| GJB2 | 50 | 34 | 17 | 6 | 3 | 3 | 108 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 47 | 31 | 15 | 6 | 3 | 0 | 101 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 11 | 2 | 3 | 0 | 0 | 0 | 16 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomics England Pilot Project, Genomics England | 1 | 0 | 0 | 0 | 0 | 0 | 1 |