Department of Pathophysiology and Transplantation (University of Milan)
General information
Personnel
- Dario Ronchi, Principal Investigator
Phone: 00390255032709
Email: dario.ronchi@unimi.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COA8 | 1 | Oct 2, 2023 |
| COX18 | 1 | Jun 21, 2023 |
| DNM2 | 1 | Sep 20, 2023 |
| LOC130063529 | 1 | Sep 20, 2023 |
| LOC130067862 | 2 | Jul 14, 2020 |
| SCO2 | 2 | Jul 14, 2020 |
| TYMP | 5 | Jul 14, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant centronuclear myopathy | 1 | Sep 20, 2023 |
| Mitochondrial DNA depletion syndrome 1 | 5 | Jul 14, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 1 | Oct 2, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Jun 21, 2023 |