Medical Genetics (Spectrum Health)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 21q22.11q22.12 microdeletion syndrome | 1 | Jan 29, 2020 |
| Alkuraya-Kucinskas syndrome | 1 | Jun 12, 2023 |
| Autosomal recessive polycystic kidney disease | 1 | Feb 9, 2021 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 4 | Aug 22, 2023 |
| Osteogenesis imperfecta type 8 | 2 | Feb 9, 2023 |