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
- ACMG Guidelines, 2015
- ACMG SVI
- ClinGen ATM V1.1.0
- ClinGen ATM V1.3.0
- ClinGen ATM V1.4.0
- ClinGen ATM V1.5.0
- ClinGen BRCA1 1.2.0
- ClinGen BRCA1 V1.0.0
- ClinGen BRCA1 V1.1.0
- ClinGen BRCA2 1.2.0
- ClinGen BRCA2 V1.0.0
- ClinGen BRCA2 V1.1.0
- ClinGen CDH1 V3.1.0
- ClinGen MLH1 V1.0.0
- ClinGen MLH1 V2.0.0
- ClinGen MSH2 V1.0.0
- ClinGen MSH2 V2.0.0
- ClinGen MSH6 V1.0.0
- ClinGen MSH6 V2.0.0
- ClinGen PALB2 V1.0.0
- ClinGen PALB2 V1.1.0
- ClinGen PALB2 V1.2.0
- ClinGen PMS2 V1.0.0
- ClinGen PMS2 V2.0.0
- ClinGen PTEN V3.0.0
- ClinGen PTEN V3.1.0
- ClinGen PTEN V3.2.0
- ClinGen TP53 V1.4.0
- ClinGen TP53 V2.4.0
- Fortuno et al. (Hum Mutat. 2021)
- Lee et al. (Hum Mutat. 2018)
Summary of submissions to ClinVar
Total submissions: 931
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 64 | Jul 7, 2026 |
| BARD1 | 26 | May 22, 2026 |
| BRCA1 | 144 | Jul 7, 2026 |
| BRCA2 | 145 | Jul 7, 2026 |
| BRIP1 | 34 | Aug 12, 2026 |
| C11orf65 | 32 | Jul 7, 2026 |
| CDH1 | 12 | May 22, 2026 |
| CHEK2 | 64 | Jul 7, 2026 |
| LOC106721785 | 1 | Aug 8, 2024 |
| LOC111589215 | 1 | May 22, 2026 |
| LOC126862571 | 13 | Feb 21, 2026 |
| LOC129390903 | 1 | Feb 21, 2026 |
| LOC129933707 | 1 | May 22, 2026 |
| LOC130004273 | 1 | Dec 4, 2025 |
| MAP3K1 | 5 | Feb 22, 2019 |
| MEN1 | 1 | Aug 8, 2024 |
| MLDHR | 1 | Dec 4, 2025 |
| MLH1 | 14 | Dec 4, 2025 |
| MRE11 | 1 | Oct 11, 2024 |
| MSH2 | 12 | Feb 21, 2026 |
| MSH6 | 18 | May 22, 2026 |
| PALB2 | 19 | May 22, 2026 |
| PIK3CA | 13 | Feb 22, 2019 |
| PMS2 | 8 | Apr 29, 2026 |
| PTEN | 26 | May 22, 2026 |
| RAD51C | 32 | Jul 7, 2026 |
| RAD51D | 23 | Jul 7, 2026 |
| RAD51L3-RFFL | 23 | Jul 7, 2026 |
| STK11 | 5 | Jan 21, 2026 |
| TP53 | 249 | Jul 7, 2026 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary breast ovarian cancer syndrome | 545 | Aug 12, 2026 |
| Ovarian neoplasm | 386 | Feb 22, 2019 |