University of British Columbia (BC Children's Hospital)
General information
Personnel
- Malavika Hebbar, Variant scientist/curator
Phone: 6046499923
Email: malavika.hebbar@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cognitive impairment with or without cerebellar ataxia | 1 | Aug 31, 2023 |
| Developmental and epileptic encephalopathy, 13 | 2 | Aug 31, 2023 |
| Seizures, benign familial infantile, 5 | 3 | Aug 31, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Aug 31, 2023 |