Cambridge Genomics Laboratory (East Genomic Laboratory Hub, NHS Genomic Medicine Service)
General information
Cambridge Genomics Laboratory
East Genomic Laboratory Hub, NHS Genomic Medicine Service
Cambridge Biomedical Campus
Hills Road
Cambridge
Cambridgeshire
United Kingdom - CB2 0QQ
https://www.eastgenomics.nhs.uk
Organization ID: 288359
East Genomic Laboratory Hub, NHS Genomic Medicine Service
Cambridge Biomedical Campus
Hills Road
Cambridge
Cambridgeshire
United Kingdom - CB2 0QQ
https://www.eastgenomics.nhs.uk
Organization ID: 288359
Personnel
- Joo Wook Ahn, Lab Director
Phone: 01223235277
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cystic fibrosis | 1 | Feb 2, 2024 |
| Distal myopathy | 1 | Nov 4, 2024 |
| Hereditary skeletal muscle disorder | 1 | Nov 4, 2024 |
| Hyperthyroxinemia, dystransthyretinemic | 1 | Apr 9, 2024 |
| Inherited MMR deficiency (Lynch syndrome) | 1 | Jun 17, 2024 |
| Inherited breast cancer and ovarian cancer | 1 | Jun 17, 2024 |
| Inherited ovarian cancer (without breast cancer) | 1 | Jun 17, 2024 |
| Intellectual disability | 1 | Nov 4, 2024 |
| NICE approved PARP inhibitor treatment | 1 | Jun 17, 2024 |
| Stickler syndrome | 1 | May 24, 2024 |
| Tuberous sclerosis syndrome | 5 | May 24, 2024 |