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 |
|---|---|---|---|---|---|
| 3 | 3 | 24 | 4 | 0 | 32 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| SCN1B | 3 | 3 | 24 | 4 | 32 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 20 | 4 | 26 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 2 | 0 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 1 | 1 | 0 | 0 | 2 |
| Courtagen Diagnostics Laboratory, Courtagen Life Sciences | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Phosphorus, Inc. | 0 | 0 | 1 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 0 | 0 | 1 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 0 | 1 |