Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Allan-Herndon-Dudley syndrome | 1 | Mar 25, 2024 |
| Asphyxiating thoracic dystrophy 3 | 2 | Jul 25, 2024 |
| Cutis laxa with osteodystrophy | 1 | Jan 25, 2024 |
| Focal segmental glomerulosclerosis 7 | 1 | Jan 28, 2024 |
| Fraser syndrome 2 | 2 | Nov 5, 2023 |
| Joubert syndrome 6 | 2 | Jan 28, 2024 |
| Ornithine carbamoyltransferase deficiency | 2 | Jan 25, 2024 |