Shanghai First Maternity and Infant Hospital (Tongji University), SFMIH
General information
Shanghai First Maternity and Infant Hospital, SFMIH
Tongji University
2699 West Gaoke Road
Shanghai
China - 201204
https://www.51mch.com/english
Organization ID: 505826
Tongji University
2699 West Gaoke Road
Shanghai
China - 201204
https://www.51mch.com/english
Organization ID: 505826
Personnel
- Shuyuan Li
- Jun-Yu Zhang, Administrator
Phone: 8621968886
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 22q11.2 central deletion syndrome | 5 | Jul 3, 2019 |
| 22q11.2 central duplication syndrome | 2 | Jul 3, 2019 |
| 22q11.2 distal duplication syndrome | 2 | Jul 3, 2019 |
| Axenfeld-Rieger syndrome type 3 | 1 | Apr 5, 2022 |
| Cat eye syndrome | 1 | Apr 5, 2022 |
| Chromosome 22q11.2 microduplication syndrome | 4 | Jul 3, 2019 |
| DiGeorge syndrome | 5 | Jul 3, 2019 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Nov 2, 2021 |
| Pelizaeus-Merzbacher disease | 1 | Mar 4, 2020 |
| Polycystic kidney disease, adult type | 1 | Nov 9, 2022 |
| Thanatophoric dysplasia type 1 | 1 | Jul 25, 2016 |
| Velocardiofacial syndrome | 5 | Jul 3, 2019 |
| not provided | 6 | Apr 5, 2022 |