Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) (c/o QIMR Berghofer Medical Research Institute), ENIGMA
General information
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), ENIGMA
c/o QIMR Berghofer Medical Research Institute
https://enigmaconsortium.org/
Organization ID: 504863
c/o QIMR Berghofer Medical Research Institute
https://enigmaconsortium.org/
Organization ID: 504863
Expert panel documentation
Personnel
- Michael Parsons, Coordinator
Phone: +61733620395
Email: michael.parsons@qimrberghofer.edu.au - Amanda Spurdle
Phone: +617 3362 0371
Email: amanda.spurdle@qimrberghofer.edu.au
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 7431
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRCA1 | 3331 | Aug 19, 2019 |
| BRCA2 | 4100 | Aug 19, 2019 |
| LOC106721785 | 6 | Oct 4, 2016 |
| LOC110485084 | 2 | Oct 4, 2016 |
| LOC111589215 | 19 | Oct 4, 2016 |
| LOC111589216 | 1 | Oct 4, 2016 |
| LOC112163653 | 1 | Aug 17, 2015 |
| LOC126862571 | 503 | Jul 23, 2019 |
| LOC130009523 | 2 | Aug 17, 2015 |
| NBR2 | 16 | Aug 17, 2015 |
| ZAR1L | 2 | Aug 17, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 3331 | Aug 19, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 4100 | Aug 19, 2019 |