Department of Immunology (University Hospital Southampton NHSFT)
General information
Personnel
- William Rae, Staff
Phone: +44 7919 075724
Email: will.rae@nhs.net
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-Methylglutaconic aciduria type 2 | 1 | Jul 26, 2017 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 2 | Jul 26, 2017 |
| Ectodermal dysplasia and immunodeficiency 1 | 1 | Jul 26, 2017 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 | Jul 26, 2017 |
| Hyper-IgM syndrome type 1 | 1 | Jul 26, 2017 |
| Immunodeficiency, common variable, 12 | 1 | Jul 26, 2017 |
| Monocytopenia with susceptibility to infections | 1 | Jul 26, 2017 |