Medical Genetics UMG (Mater Domini University Hospital/ Magna Graecia University of Catanzaro)
General information
Personnel
- Marco Flavio Michele Vismara
Phone: +393471959796
Email: [email protected] - Rodolfo Iuliano, Principal Investigator
Phone: +3909613695182
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 16
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achondrogenesis type II | 1 | Aug 26, 2022 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 | Jan 16, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Sep 28, 2022 |
| Congenital hypotrichosis with juvenile macular dystrophy | 3 | Nov 29, 2022 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Sep 8, 2022 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Jan 31, 2023 |
| Familial cancer of breast | 2 | Nov 22, 2022 |
| Familial hypokalemia-hypomagnesemia | 1 | Jul 3, 2017 |
| Li-Fraumeni syndrome 1 | 1 | Sep 11, 2022 |
| Lynch syndrome 1 | 2 | Aug 12, 2023 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 1 | Aug 7, 2015 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Aug 12, 2023 |