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 |
|---|---|---|---|---|---|
| 7 | 9 | 14 | 0 | 8 | 38 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| SCN8A | 6 | 9 | 13 | 8 | 36 |
| KCNQ3 | 1 | 0 | 0 | 0 | 1 |
| LOC114803470, SCN8A | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 1 | 3 | 4 | 0 | 8 |
| Genome-Nilou Lab | 0 | 0 | 0 | 8 | 8 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 5 | 0 | 7 |
| Center of Excellence for Medical Genomics, Chulalongkorn University | 3 | 1 | 0 | 0 | 4 |
| New York Genome Center | 0 | 0 | 4 | 0 | 4 |
| University of British Columbia, BC Children's Hospital | 2 | 1 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, Cologne University | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 0 | 0 | 1 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 1 | 0 | 0 | 1 |
| Watson Genetic Lab | 0 | 1 | 0 | 0 | 1 |