Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla" (Administración Nacional de Laboratorios e Institutos de Salud)
General information
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla"
Administración Nacional de Laboratorios e Institutos de Salud
Av. Las Heras 2670, 3er piso
Ciudad Autonoma de Buenos Aires
Distrito Federal
Argentina - 1425
http://www.anlis.gov.ar/cenagem/
Organization ID: 506261
Administración Nacional de Laboratorios e Institutos de Salud
Av. Las Heras 2670, 3er piso
Ciudad Autonoma de Buenos Aires
Distrito Federal
Argentina - 1425
http://www.anlis.gov.ar/cenagem/
Organization ID: 506261
Personnel
- Liliana Dain, Lab Director
Phone: +54 9 11 4917-5021
Email: lbdain@gmail.com - Leandro Simonetti, Staff
Phone: 549-11-1566-822927
Email: simonettileandro@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 62
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 15q14 microdeletion syndrome | 1 | Feb 25, 2022 |
| 2q24 microdeletion syndrome | 1 | Feb 2, 2022 |
| 7q11.23 microduplication syndrome | 1 | Feb 25, 2022 |
| Chromosome 15q11.2 deletion syndrome | 1 | May 28, 2019 |
| Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 | May 28, 2019 |
| Chromosome 1p36 deletion syndrome | 2 | Feb 25, 2022 |
| Chromosome 1q21.1 deletion syndrome | 1 | May 28, 2019 |
| Chromosome 1q21.1 duplication syndrome | 1 | May 28, 2019 |
| Chromosome 8q21.11 deletion syndrome | 1 | Feb 25, 2022 |
| DiGeorge syndrome | 1 | May 28, 2019 |
| Familial adenomatous polyposis due to 5q22.2 microdeletion | 1 | Feb 25, 2022 |
| Gorlin syndrome | 1 | Feb 25, 2022 |
| Intellectual disability | 1 | Jun 18, 2020 |
| Koolen-de Vries syndrome | 1 | May 28, 2019 |
| Lamb-Shaffer syndrome | 1 | May 28, 2019 |
| Left ventricular noncompaction 10 | 1 | Feb 25, 2022 |
| Leri pleonosteosis | 1 | May 28, 2019 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 2 | Feb 25, 2022 |
| Proximal 16p11.2 microdeletion syndrome | 2 | May 28, 2019 |
| Velocardiofacial syndrome | 1 | May 28, 2019 |
| not provided | 40 | Feb 25, 2022 |