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 |