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 |
|---|---|---|---|---|---|
| 11 | 7 | 20 | 0 | 0 | 38 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| not provided | 4 | 4 | 16 | 24 |
| EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY | 6 | 0 | 0 | 6 |
| Epilepsy, early-onset, 3, with or without developmental delay | 3 | 2 | 1 | 6 |
| not specified | 0 | 0 | 4 | 4 |
| See cases | 0 | 1 | 0 | 1 |
| Seizure | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| GeneDx | 4 | 3 | 13 | 20 |
| OMIM | 9 | 0 | 0 | 9 |
| Ambry Genetics | 0 | 0 | 4 | 4 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, Cologne University | 0 | 1 | 0 | 1 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 1 |
| Center of Excellence for Medical Genomics, Chulalongkorn University | 1 | 0 | 0 | 1 |