Department of Medical Genetics (International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine), SCMC-MGMDL
General information
Personnel
- Guoqiang Li, Staff
Phone: 18817557506
Email: [email protected] - Niu Li, Staff
Phone: 13501756514
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bone marrow failure syndrome 4 | 2 | May 20, 2020 |
| COG6-congenital disorder of glycosylation | 2 | Jan 16, 2018 |
| Coffin-Siris syndrome 8 | 1 | Nov 22, 2024 |
| Fructose-biphosphatase deficiency | 6 | Apr 11, 2017 |
| Pontocerebellar hypoplasia type 7 | 2 | Sep 21, 2021 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Aug 5, 2021 |