Laboratorio de Biologia Molecular - Genetica (Hospital de Pediatria Garrahan), LBMG
General information
Laboratorio de Biologia Molecular - Genetica, LBMG
Hospital de Pediatria Garrahan
Combate de los pozos 1881
CABA
Buenos Aires
Argentina - 1245
http://www.garrahan.gov.ar
Organization ID: 506633
Hospital de Pediatria Garrahan
Combate de los pozos 1881
CABA
Buenos Aires
Argentina - 1245
http://www.garrahan.gov.ar
Organization ID: 506633
Personnel
- Josefina Chinton, Staff
Phone: +541141226000
Email: josechinton@gmail.com - María Eugenia Foncuberta, Staff
Phone: +541132274820
Email: eugefoncu@gmail.com - Luis Gravina, Staff
Phone: 01141226000
Email: pablogravina97@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Becker muscular dystrophy | 1 | Jan 9, 2024 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Jan 11, 2024 |
| Congenital myasthenic syndrome 5 | 1 | Dec 12, 2023 |
| Duchenne muscular dystrophy | 2 | Mar 15, 2024 |
| Hypertrophic cardiomyopathy | 4 | Dec 19, 2022 |
| Hypertrophic cardiomyopathy 1 | 2 | Dec 6, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Jan 4, 2024 |
| Noonan syndrome 10 | 4 | Dec 2, 2022 |
| Noonan syndrome 2 | 1 | Jun 17, 2019 |
| Noonan syndrome 4 | 1 | Dec 20, 2022 |
| Noonan syndrome 5 | 1 | Apr 2, 2019 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Jan 2, 2023 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Nov 12, 2020 |
| RYR1-related myopathy | 1 | Feb 5, 2024 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Mar 3, 2023 |