National Health Laboratory Service (Universitas Academic Hospital and University of the Free State), NHLS
General information
National Health Laboratory Service, NHLS
Universitas Academic Hospital and University of the Free State
Bloemfontein
Free State
South Africa - 9300
https://www.ufs.ac.za/
Organization ID: 507969
Universitas Academic Hospital and University of the Free State
Bloemfontein
Free State
South Africa - 9300
https://www.ufs.ac.za/
Organization ID: 507969
Personnel
- Jaco Oosthuizen, Staff
Phone: (+27)0514053047
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1010
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 156 | Apr 26, 2022 |
| BARD1 | 55 | Apr 26, 2022 |
| BRCA1 | 166 | Apr 26, 2022 |
| BRCA2 | 227 | Apr 26, 2022 |
| BRIP1 | 39 | Apr 26, 2022 |
| C11orf65 | 51 | Apr 26, 2022 |
| CDK12 | 31 | Apr 26, 2022 |
| CHEK2 | 20 | Apr 26, 2022 |
| FANCD2 | 74 | Apr 26, 2022 |
| FANCD2OS | 15 | Apr 26, 2022 |
| KHDC3L | 1 | Feb 23, 2021 |
| LOC107303338 | 56 | Apr 26, 2022 |
| LOC126860438 | 3 | Apr 26, 2022 |
| LOC126862553 | 6 | Apr 26, 2022 |
| LOC126862571 | 17 | Apr 26, 2022 |
| LOC129935544 | 4 | Apr 26, 2022 |
| LOC130061360 | 1 | Apr 26, 2022 |
| LRRC41 | 5 | Apr 26, 2022 |
| MRE11 | 35 | Apr 26, 2022 |
| NBN | 45 | Apr 26, 2022 |
| NCR1 | 7 | Feb 23, 2021 |
| NLRP7 | 11 | Feb 23, 2021 |
| PALB2 | 37 | Apr 26, 2022 |
| PPP2R2A | 16 | Apr 26, 2022 |
| RAD51B | 33 | Apr 26, 2022 |
| RAD54L | 35 | Apr 26, 2022 |
| TP53 | 29 | Apr 26, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary breast ovarian cancer syndrome | 998 | Apr 26, 2022 |
| Hydatidiform mole | 12 | Feb 23, 2021 |