RBC Disorders, Laboratory of Genetics and Genomics (Cincinnati Children's Hospital Medical Center)
General information
RBC Disorders, Laboratory of Genetics and Genomics
Cincinnati Children's Hospital Medical Center
3333 Burnet Avenue, MLC 7015
Cincinnati
Ohio
United States - 45229
https://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/hematologic-disorders
Organization ID: 507806
Cincinnati Children's Hospital Medical Center
3333 Burnet Avenue, MLC 7015
Cincinnati
Ohio
United States - 45229
https://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/hematologic-disorders
Organization ID: 507806
Personnel
- Theodosia Kalfa, Principal Investigator
Phone: 513-636-0989
Email: theodosia.kalfa@cchmc.org - Wenying Zhang, Lab Director
Phone: 513-803-7886
Email: wenying.zhang@cchmc.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC126862382 | 1 | Oct 25, 2020 |
| VPS4A | 3 | Oct 25, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Syndromic congenital hemolytic and dyserythropoietic anemia | 3 | Oct 25, 2020 |