Rare Disease Group (University of Exeter)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CAMSAP1-related neuronal migration disorder | 6 | Sep 19, 2022 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Oct 28, 2021 |
| Oculocutaneous albinism type 1B | 1 | Oct 28, 2021 |
| SLC4A10-related neurodevelopmental disorder | 5 | Mar 7, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 1 | Oct 28, 2021 |