Unidad De Genómica (Hospital Infantil Universitario Niño Jesús)
General information
Unidad De Genómica
Hospital Infantil Universitario Niño Jesús
Avenida Menéndez Pelayo 65
Madrid
Madrid
Spain - 28009
https://www.comunidad.madrid/hospital/ninojesus
Organization ID: 509228
Hospital Infantil Universitario Niño Jesús
Avenida Menéndez Pelayo 65
Madrid
Madrid
Spain - 28009
https://www.comunidad.madrid/hospital/ninojesus
Organization ID: 509228
Personnel
- Barbara Fernandez Garoz, Variant scientist/curator
Phone: +34915035900 ext 343
Email: barbara.fernandez@salud.madrdi.org - Nelmar Valentina Ortiz Cabrera, Variant scientist/curator
Phone: +34613013336
Email: genclinnj@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Deficiency of acetyl-CoA acetyltransferase | 1 | Dec 13, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Sep 29, 2023 |