Servicio Canario de Salud (Hospital Universitario Nuestra Sra. de Candelaria), SCS
General information
Personnel
- Inmaculada Garcia-Cobaleda, Genetic Counselor
Phone: +34922602919
Email: [email protected] - Ruth Lopez-Travieso, Coordinator
Phone: +34922602919
Email: [email protected] - Ruth López Travieso, Coordinator
Phone: +34922602919
Email: [email protected] - Francisco Martinez-Bugallo, Lab Associate Director
Phone: +34922602919
Email: [email protected] - Nayra Perez-Delgado, Lab Director
Phone: +34922602919
Email: [email protected] - Carol Prieto-Morin, Principal Investigator
Phone: +34922602919
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 1 | Dec 14, 2022 |
| ACTC1 | 1 | Aug 2, 2024 |
| ACTN2 | 1 | Dec 20, 2022 |
| ADA2 | 1 | Dec 14, 2022 |
| AIFM1 | 1 | Dec 20, 2022 |
| BICD2 | 1 | Dec 14, 2022 |
| BRCA1 | 1 | Feb 14, 2024 |
| CFTR | 3 | Oct 11, 2023 |
| COL4A3 | 1 | Dec 28, 2022 |
| COL4A5 | 1 | Sep 10, 2024 |
| DNAH11 | 1 | Jul 30, 2024 |
| DSP | 1 | Dec 6, 2023 |
| FLNC | 1 | Sep 20, 2024 |
| GAA | 3 | Dec 14, 2022 |
| GJD2-DT | 1 | Aug 2, 2024 |
| GRIN1 | 1 | Nov 25, 2022 |
| IHH | 1 | Sep 20, 2024 |
| LOC111674472 | 1 | Oct 11, 2023 |
| LOC126861897 | 1 | Dec 20, 2022 |
| MFF-DT | 1 | Dec 28, 2022 |
| MHRT | 2 | Dec 21, 2022 |
| MYBPC3 | 1 | Dec 14, 2022 |
| MYH7 | 2 | Dec 21, 2022 |
| NF1 | 1 | Nov 9, 2022 |
| NPHS2 | 1 | Jan 16, 2024 |
| ODAD1 | 2 | Feb 14, 2024 |
| PKP2 | 1 | Dec 6, 2023 |
| POU3F4 | 1 | Nov 8, 2023 |
| PRPF8 | 1 | Feb 12, 2023 |
| PTEN | 1 | Nov 15, 2022 |
| RAB33A | 1 | Dec 20, 2022 |
| SCN5A | 1 | May 21, 2024 |
| SERPINA1 | 1 | Oct 25, 2023 |
| SMAD4 | 1 | Dec 20, 2022 |
| SOD1 | 1 | Oct 10, 2023 |
| STING1 | 1 | Dec 14, 2022 |
| TP63 | 1 | Dec 14, 2022 |
| TRPC6 | 1 | Nov 29, 2022 |
| TTN | 1 | Feb 9, 2023 |
| TTN-AS1 | 1 | Feb 9, 2023 |