ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50087/
Organization ID: 509268
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50087/
Organization ID: 509268
Personnel
- Johanna Hadler, Coordinator
Phone: +61733620395
Email: johanna.hadler@qimrberghofer.edu.au - Michael Parsons, Coordinator
Phone: +61733620395
Email: michael.parsons@qimrberghofer.edu.au
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 40
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRCA1 | 20 | Apr 24, 2024 |
| BRCA2 | 20 | Apr 24, 2024 |
| LOC126862571 | 1 | Nov 8, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 20 | Apr 24, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 20 | Apr 24, 2024 |