Molecular Diagnosis for Inborn Errors of Immunity (Hospital de Pediatria Garrahan)
General information
Personnel
- Silvia Danielian, Lab Director
Phone: 541141226000
Email: danielian.silvia@gmail.com - Veronica Goris, Principal Investigator
Phone: 541141226000
Email: veronicagoris@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CARD11 | 9 | Oct 6, 2022 |
| CARD11-AS1 | 4 | Oct 6, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| BENTA disease | 4 | Oct 6, 2022 |
| Hemophagocytosis | 1 | Sep 13, 2022 |
| Immunodeficiency 11b with atopic dermatitis | 4 | Oct 6, 2022 |