Department of Medical and Molecular Genetics (Dongguan Institute of Pediatrics), MMG-DGIP
General information
Personnel
- Qi Peng, Staff
Phone: +86 13480461932
Email: lxmdgeys@163.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Alagille syndrome due to a NOTCH2 point mutation | 1 | Aug 29, 2022 |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Jul 3, 2022 |
Severe X-linked mitochondrial encephalomyopathy | 1 | Mar 15, 2022 |
Van der Woude syndrome 1 | 1 | Feb 7, 2021 |