Department of Maternal-Fetal Biology (National Research Institute for Child Health and Development), MFB
General information
Personnel
- Tomoko Kawai, Lab Associate Director
Phone: +81334160181
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autoinflammatory syndrome, familial, Behcet-like | 2 | Aug 27, 2020 |
| Camptomelic dysplasia | 1 | Jul 14, 2021 |
| Kabuki syndrome 1 | 1 | Jun 13, 2023 |
| Kabuki syndrome 2 | 1 | Jun 13, 2023 |
| Rauch-Steindl syndrome | 1 | Jun 12, 2024 |
| TRAF3 haploinsufficiency | 1 | Mar 1, 2023 |