GenomeConnect - CureCADASIL
General information
Personnel
- Juliann Savatt, Genetic Counselor
Phone: 570-214-1721
Email: datashare@clinicalgenome.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 29
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| NOTCH3 | 29 | Dec 30, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 24 | Dec 30, 2022 |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 4 | Dec 30, 2022 |
| Lateral meningocele syndrome | 3 | Dec 30, 2022 |
| Myofibromatosis, infantile, 2 | 2 | Dec 30, 2022 |
| Sneddon syndrome | 1 | Dec 30, 2022 |
| not provided | 1 | Dec 29, 2021 |