Servicio Canario de Salud (Hospital Universitario Nuestra Sra. de Candelaria), SCS
General information
Personnel
- Inmaculada Garcia-Cobaleda, Genetic Counselor
Phone: +34922602919
Email: igarcob@gobiernodecanarias.org - Ruth Lopez-Travieso, Coordinator
Phone: +34922602919
Email: rloptra@gobiernodecanarias.org - Ruth López Travieso, Coordinator
Phone: +34922602919
Email: rloptra@gmail.com - Francisco Martinez-Bugallo, Lab Associate Director
Phone: +34922602919
Email: fmarbug@gobiernodecanarias.org - Nayra Perez-Delgado, Lab Director
Phone: +34922602919
Email: nperdel@gmail.com - Carol Prieto-Morin, Principal Investigator
Phone: +34922602919
Email: cprimor@gobiernodecanarias.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 33
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC9 | 1 | Dec 14, 2022 |
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 |
DSP | 1 | Dec 6, 2023 |
GAA | 3 | Dec 14, 2022 |
GRIN1 | 1 | Nov 25, 2022 |
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 |
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 |