Imagene.me medical diagnostic laboratory (IMAGENE.ME SA)
General information
Imagene.me medical diagnostic laboratory
IMAGENE.ME SA
Fabryczna 4/1E
Bialystok
Poland - 15-483
https://imagene.me/en/
Organization ID: 508633
IMAGENE.ME SA
Fabryczna 4/1E
Bialystok
Poland - 15-483
https://imagene.me/en/
Organization ID: 508633
Personnel
- Karolina Chwialkowska, Variant scientist/curator
Phone: +48514076072
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| PURA | 1 | Mar 21, 2023 |
| SYNGAP1 | 1 | Jul 19, 2024 |
| SYNGAP1-AS1 | 1 | Jul 19, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Intellectual disability, autosomal dominant 5 | 1 | Jul 19, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Mar 21, 2023 |