Genetic and Metabolic Disease Program, Children's Medical Center Research Institute (UT Southwestern Medical Center at Dallas)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Auditory neuropathy-optic atrophy syndrome | 1 | Mar 28, 2024 |
| Intellectual disability | 1 | Jan 26, 2021 |
| Kabuki syndrome 1 | 1 | Apr 5, 2017 |
| Lipoyl transferase 1 deficiency | 1 | Aug 16, 2017 |
| Microcephaly | 1 | Jan 26, 2021 |
| Mitochondrial complex III deficiency nuclear type 5 | 2 | Apr 6, 2023 |
| Seizure | 1 | Jan 26, 2021 |