Costain lab (The Hospital for Sick Children), COSTAIN
General information
Personnel
- Gregory Costain, Principal Investigator
Phone: 4163203910
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal brain morphology | 2 | Oct 4, 2018 |
| Intellectual disability | 2 | Oct 4, 2018 |
| Intellectual disability, autosomal dominant 6 | 1 | Sep 9, 2020 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Jun 27, 2024 |
| Multiple congenital anomalies | 1 | Oct 5, 2017 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 2 | Jan 19, 2021 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | Oct 8, 2017 |