Genomics and Molecular Medicine Service (East Genomic Laboratory Hub, NHS Genomic Medicine Service)
General information
Personnel
- Joo Wook Ahn, Lab Director
Phone: 01223235277
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 67
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Inherited MMR deficiency (Lynch syndrome) | 13 | Aug 15, 2024 |
| Inherited breast cancer and ovarian cancer | 28 | Nov 8, 2024 |
| Inherited ovarian cancer (without breast cancer) | 13 | Oct 14, 2024 |
| Inherited polyposis and early onset colorectal cancer - germline testing | 3 | Oct 14, 2024 |
| Inherited prostate cancer | 3 | Jul 3, 2024 |
| NICE approved PARP inhibitor treatment | 7 | Aug 15, 2024 |