Rare Disease Center (Seoul National University Hospital)
General information
Personnel
- Seungbok Lee, Staff
Phone: +821084273470
Email: for3guy@naver.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DEPDC5 | 2 | Mar 23, 2023 |
| EEF1A2 | 1 | Mar 23, 2023 |
| KCNQ2 | 1 | Mar 23, 2023 |
| LGI1 | 1 | Mar 23, 2023 |
| LOC132090595 | 1 | Mar 23, 2023 |
| MEF2C | 1 | Mar 23, 2023 |
| MEF2C-AS2 | 1 | Mar 23, 2023 |
| MTOR | 1 | Mar 23, 2023 |
| SLC6A1 | 1 | Mar 23, 2023 |
| SLC6A1-AS1 | 1 | Mar 23, 2023 |
| SYNGAP1 | 1 | Mar 23, 2023 |
| SYNGAP1-AS1 | 1 | Mar 23, 2023 |
| TSC1 | 1 | Mar 23, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant epilepsy | 10 | Mar 23, 2023 |