Clinical Genetics Research Group (University of Calgary)
General information
Personnel
- Francois Bernier
Phone: 403-955-7373
Email: francois.bernier@albertahealthservices.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DPH1 | 1 | Jun 5, 2015 |
| HNRNPK | 8 | Feb 22, 2018 |
| HNRNPK-AS1 | 1 | Feb 22, 2018 |
| LOC129931382 | 1 | Aug 27, 2015 |
| PISD | 2 | Jan 17, 2019 |
| SF3B4 | 18 | Aug 27, 2015 |
| SIX1 | 1 | Feb 20, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Au-Kline syndrome | 8 | Feb 22, 2018 |
| Branchiootic syndrome 3 | 1 | Feb 20, 2015 |
| Nager syndrome | 18 | Aug 27, 2015 |
| PISD-related mitochondrial disease | 2 | Jan 17, 2019 |
| not provided | 1 | Jun 5, 2015 |