Department of Medical Laboratory (Affiliated Hospital of Southwest Medical University), SWMU-JYB
General information
Personnel
- Qing Luo, Staff
Phone: +86 15883017042
Email: luoq93@163.com - Chunyan Xian, Staff
Phone: +86 18011174848
Email: chunyanxian91@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 1 | Feb 24, 2023 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Jul 24, 2023 |
| Duchenne muscular dystrophy | 1 | Feb 24, 2023 |
| Dystonia 5 | 1 | Feb 2, 2021 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 | Dec 25, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 23 | 2 | Jun 12, 2023 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 | Jul 14, 2023 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2 | Feb 3, 2021 |
| Oculofaciocardiodental syndrome | 1 | Oct 21, 2022 |
| Rett syndrome | 1 | Jul 24, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | Mar 31, 2021 |