Medical Genetics (Necip Fazıl Sehir Hastanesi)
General information
Personnel
- SEDA CAKMAKLI, Genetic Counselor
Phone: +905309666367
Email: cakmakliseda@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aniridia 1 | 1 | Jan 25, 2019 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Jan 25, 2019 |
| Factor XIII, A subunit, deficiency of | 1 | Jan 25, 2019 |
| Fraser syndrome 1 | 1 | Apr 30, 2019 |
| Marfan syndrome | 1 | Jan 25, 2019 |
| Microcytic anemia | 1 | Jan 25, 2019 |
| Polycystic kidney disease, adult type | 1 | Jan 25, 2019 |
| Van der Woude syndrome 1 | 1 | Jan 25, 2019 |