Molecular Diagnostic Laboratory (Beijing Chigene Translational Medicine Research Center)
General information
Molecular Diagnostic Laboratory
Beijing Chigene Translational Medicine Research Center
Biomedical Park, No. 88 Kechuang Sixth Ave, Yizhuang
Beijing
Beijing
China - 100176
http://chigene.mysxl.cn/
Organization ID: 508260
Beijing Chigene Translational Medicine Research Center
Biomedical Park, No. 88 Kechuang Sixth Ave, Yizhuang
Beijing
Beijing
China - 100176
http://chigene.mysxl.cn/
Organization ID: 508260
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a JAG1 point mutation | 1 | Aug 29, 2022 |
| Developmental and epileptic encephalopathy, 67 | 1 | Sep 28, 2021 |
| Early infantile epileptic encephalopathy with suppression bursts | 1 | Jul 12, 2022 |
| Hao-Fountain syndrome | 3 | Nov 1, 2022 |
| Microphthalmia, isolated, with coloboma 9 | 2 | Sep 21, 2021 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Jan 10, 2022 |
| X-linked agammaglobulinemia | 1 | Mar 5, 2024 |