Department of Medical Genetics and Molecular Diagnostic Laboratory (Shanghai Children's Medical Center), SCMC-MGMDL
General information
Personnel
- guoqiang li, Staff
Phone: 18817557506
Email: 18817557506@126.com - Niu Li, Staff
Phone: 13501756514
Email: liniu0509@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bone marrow failure syndrome 4 | 2 | May 20, 2020 |
| COG6-ongenital disorder of glycosylation | 2 | Jan 16, 2018 |
| 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 |