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 |
|---|---|---|---|---|---|
| 60 | 1 | 0 | 1 | 0 | 62 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| SCN2A | 58 | 1 | 0 | 59 |
| NUS1 | 1 | 0 | 0 | 1 |
| PUM1 | 1 | 0 | 0 | 1 |
| TSC2 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 13
| Condition | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| Early infantile epileptic encephalopathy with suppression bursts | 23 | 0 | 0 | 23 |
| West syndrome | 12 | 0 | 0 | 12 |
| West syndrome; Early infantile epileptic encephalopathy with suppression bursts | 11 | 0 | 0 | 11 |
| Benign familial infantile epilepsy | 9 | 0 | 0 | 9 |
| Seizures, benign familial infantile, 3 | 3 | 0 | 0 | 3 |
| Epilepsy of infancy with migrating focal seizures | 2 | 0 | 0 | 2 |
| Benign Neonatal Epilepsy | 1 | 0 | 0 | 1 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | 0 | 0 | 1 |
| Generalized epilepsy with febrile seizures plus | 1 | 0 | 0 | 1 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | 0 | 0 | 1 |
| Severe myoclonic epilepsy in infancy | 0 | 1 | 0 | 1 |
| Spinocerebellar ataxia 47 | 1 | 0 | 0 | 1 |
| Tuberous sclerosis 2 | 0 | 0 | 1 | 1 |