Unidad de Genómica Médica UC (Pontificia Universidad Católica de Chile), UGM-UC
General information
Unidad de Genómica Médica UC, UGM-UC
Pontificia Universidad Católica de Chile
Avda. Libertador Bernardo O'Higgins 340
Santiago
Region Metropolitana
Chile - 8331150
https://medicina.uc.cl
Organization ID: 506969
Pontificia Universidad Católica de Chile
Avda. Libertador Bernardo O'Higgins 340
Santiago
Region Metropolitana
Chile - 8331150
https://medicina.uc.cl
Organization ID: 506969
Personnel
- Jose Miranda, Lab Director
Phone: +56956889303
Email: jpmirandamarin@gmail.com - José Santos, Principal Investigator
Phone: +56989396100
Email: jsantosm@uc.cl
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cholestanol storage disease | 3 | Apr 30, 2019 |
| Congenital generalized lipodystrophy type 1 | 2 | May 22, 2019 |
| Diabetes-deafness syndrome maternally transmitted | 1 | May 3, 2019 |
| Hypertriglyceridemia 1 | 1 | Apr 30, 2019 |
| LCAT deficiency | 2 | May 3, 2019 |
| Maturity-onset diabetes of the young type 2 | 2 | May 20, 2019 |