Medical Genetics Lab (Xi'an People's Hospital(Xi'an Fourth Hospital)), MGL_XFH
General information
Personnel
- Yitong Lu, Genetic Counselor
Phone: +86 15664876695
Email: 1423315665@qq.com - SZ ZHAO, Genetic Counselor
Phone: 86-29-61199170
Email: teszsz@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Apr 4, 2021 |
| Baller-Gerold syndrome | 1 | May 23, 2021 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 2 | Dec 28, 2024 |
| Generalized cerebral atrophy/hypoplasia | 1 | Jan 12, 2021 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Sep 6, 2023 |
| Intellectual disability, autosomal dominant 29 | 1 | Apr 24, 2023 |
| Osteogenesis imperfecta type I | 1 | Aug 29, 2021 |
| Polycystic kidney disease 4 | 1 | Feb 9, 2021 |
| Weiss-Kruszka syndrome | 1 | Jun 30, 2021 |
| Wiedemann-Steiner syndrome | 1 | Sep 14, 2022 |
| ZNF462-related disorder | 1 | Jan 2, 2025 |