Institute of Experimental Medicine, Department of Genetics (Istanbul University), DETAE
General information
Personnel
- Seda Susgun, Informatics staff
Phone: +905319468108
Email: ssusgun@bezmialem.edu.tr
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- Submitter's publication
- Submitter's publication
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive ataxia, Beauce type | 1 | Jul 11, 2015 |
| Epilepsy, familial temporal lobe, 1 | 1 | Aug 11, 2015 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 3 | Jul 8, 2023 |
| Non-syndromic syndactyly | 4 | Oct 29, 2022 |