Prenatal Diagnosis Center (Inner Mongolia Medical University)
General information
Personnel
- Liang Lei, Lab Director
Phone: 8618904715259
Email: 45976953@qq.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 25
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute intermittent porphyria | 1 | Oct 20, 2022 |
| Allan-Herndon-Dudley syndrome | 1 | Oct 20, 2022 |
| Cornelia de Lange syndrome 1 | 1 | Oct 20, 2022 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 | Oct 20, 2022 |
| Kabuki syndrome 1 | 1 | Oct 20, 2022 |
| Kleefstra syndrome 2 | 1 | Oct 20, 2022 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Oct 20, 2022 |
| Neurofibromatosis, type 1 | 1 | Oct 20, 2022 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Oct 20, 2022 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 2 | Oct 20, 2022 |
| Polycystic kidney disease, adult type | 7 | Oct 20, 2022 |
| Renal dysplasia, cystic, susceptibility to | 1 | Oct 20, 2022 |
| Wiedemann-Steiner syndrome | 1 | Oct 20, 2022 |
| X-linked Alport syndrome | 4 | Oct 20, 2022 |