Institute of Medical Genetics (ASUI Udine)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Benign hereditary chorea | 1 | Nov 18, 2020 |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Feb 21, 2020 |
Cornelia de Lange syndrome 5 | 1 | Dec 2, 2020 |
Delayed fine motor development | 1 | Oct 21, 2019 |
Expressive language delay | 1 | Oct 21, 2019 |
Intention tremor | 1 | Oct 21, 2019 |
Joint laxity | 1 | Oct 21, 2019 |
Motor delay | 1 | Oct 21, 2019 |
Silver-Russell syndrome 1 | 1 | Aug 6, 2020 |