Cytogenetique et Genetique Moleculaire (CHU Besancon)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Armfield syndrome | 1 | Jan 12, 2024 |
| Developmental and epileptic encephalopathy, 42 | 1 | Jan 12, 2024 |
| Fanconi anemia complementation group A | 1 | Jan 12, 2024 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jan 12, 2024 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 | Jan 12, 2024 |
| Pyridoxine-dependent epilepsy | 1 | Jan 12, 2024 |
| Spinocerebellar ataxia type 6 | 1 | Jan 12, 2024 |