MNM Diagnostics
General information
Personnel
- Katarzyna Zawadzka, Lab Director
Phone: +48 61 829 50 75
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiofaciocutaneous syndrome 3 | 1 | Mar 3, 2021 |
| Ellis-van Creveld syndrome | 1 | Mar 3, 2021 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 3 | Mar 3, 2021 |
| Lynch syndrome 1 | 1 | Sep 2, 2020 |
| Macular dystrophy | 1 | Dec 23, 2020 |
| Marfan syndrome | 2 | Mar 3, 2021 |
| Muscular dystrophy | 1 | Dec 23, 2020 |
| Pyle metaphyseal dysplasia | 2 | Dec 23, 2020 |
| Thrombocytopenia | 1 | Dec 23, 2020 |
| Visual impairment | 1 | Dec 23, 2020 |