IRCCS Fondazione Stella Maris (University of Pisa)
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CYP2U1 | 1 | Sep 26, 2018 |
| HMGCS2 | 1 | May 27, 2021 |
| KCTD7 | 2 | Aug 10, 2018 |
| LOC122094910 | 1 | May 27, 2021 |
| LOC126863186 | 1 | May 26, 2021 |
| MYH2 | 1 | Apr 8, 2019 |
| MYHAS | 1 | Apr 8, 2019 |
| PITRM1 | 1 | May 27, 2021 |
| PITRM1-AS1 | 1 | May 27, 2021 |
| PPP6R2 | 1 | May 26, 2021 |
| SBF1 | 1 | May 26, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | May 27, 2021 |
| Charcot-Marie-Tooth disease type 4B3 | 2 | May 26, 2021 |
| Hereditary spastic paraplegia 56 | 1 | Sep 26, 2018 |
| Infantile onset spinocerebellar ataxia | 1 | May 27, 2021 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Apr 8, 2019 |
| Progressive myoclonic epilepsy type 3 | 2 | Aug 10, 2018 |