German Consortium for Hereditary Breast and Ovarian Cancer (University Hospital Cologne), GC-HBOC
General information
Personnel
- Marvin Döbel, Informatics staff
Phone: +4970712972298
Email: Marvin.Doebel@med.uni-tuebingen.de - Jan Hauke, Contact
Phone: +4922147830762
Email: jan.hauke@uk-koeln.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 478
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 10 | Jan 17, 2024 |
| BARD1 | 3 | Jan 17, 2024 |
| BRCA1 | 89 | Jan 18, 2024 |
| BRCA2 | 51 | Jan 17, 2024 |
| BRIP1 | 6 | Jan 18, 2024 |
| C11orf65 | 4 | Jan 17, 2024 |
| CDH1 | 1 | Jan 8, 2024 |
| CHEK2 | 10 | Jan 18, 2024 |
| LOC126862571 | 10 | Jan 8, 2024 |
| MAP3K1 | 5 | Feb 22, 2019 |
| MLH1 | 3 | Jan 17, 2024 |
| MSH2 | 3 | Feb 22, 2019 |
| MSH6 | 6 | Jan 5, 2024 |
| PALB2 | 5 | Jan 18, 2024 |
| PIK3CA | 13 | Feb 22, 2019 |
| PMS2 | 1 | Jan 17, 2024 |
| PTEN | 21 | Feb 22, 2019 |
| RAD51C | 9 | Jan 8, 2024 |
| RAD51D | 9 | Feb 15, 2024 |
| RAD51L3-RFFL | 9 | Feb 15, 2024 |
| TP53 | 232 | Jan 18, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary breast ovarian cancer syndrome | 92 | Feb 15, 2024 |
| Neoplasm of ovary | 386 | Feb 22, 2019 |