Bioinformatics Unit (Institut Pasteur de Montevideo)
General information
Personnel
- Lucia Spangenberg, Coordinator
Phone: 59825220910
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charlevoix-Saguenay spastic ataxia | 1 | Sep 20, 2023 |
| Corticosteroid-binding globulin deficiency | 1 | May 11, 2021 |
| Immunodeficiency, common variable, 10 | 1 | Sep 5, 2023 |
| Lissencephaly due to LIS1 mutation | 1 | Jun 4, 2021 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | May 4, 2022 |
| Neuronal ceroid lipofuscinosis 8 | 2 | Mar 4, 2024 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 2 | Mar 4, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Oct 8, 2024 |
| Shwachman-Diamond syndrome 1 | 2 | May 4, 2022 |