Bristol Genetics Laboratory (North Bristol NHS Trust), BGL
General information
Bristol Genetics Laboratory, BGL
North Bristol NHS Trust
Bristol
Avon
United Kingdom - BS10 5NB
https://www.nbt.nhs.uk/south-west-genomic-laboratory-hub
Organization ID: 320095
North Bristol NHS Trust
Bristol
Avon
United Kingdom - BS10 5NB
https://www.nbt.nhs.uk/south-west-genomic-laboratory-hub
Organization ID: 320095
Personnel
- Julie Evans, Contact
Phone: 0117 4146184
Email: julie.evans@nbt.nhs.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CACNA1C | 1 | Apr 6, 2023 |
| LOC126860549 | 1 | Jan 19, 2017 |
| POU3F3 | 1 | Oct 4, 2022 |
| PUF60 | 12 | Jan 19, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CACNA1C-related disorder | 1 | Apr 6, 2023 |
| Snijders blok-fisher syndrome | 1 | Oct 4, 2022 |
| not provided | 12 | Jan 19, 2017 |