Genetic Diagnostic Laboratory (University of Szeged)
General information
Personnel
- Zoltán Maróti, Principal Investigator
Phone: +36 62 341713
Email: sztegdl.pedia@med.u-szeged.hu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive Alport syndrome | 2 | Feb 5, 2016 |
| Benign familial hematuria | 5 | Feb 5, 2016 |
| Gorlin syndrome | 1 | Mar 19, 2019 |
| Holoprosencephaly 7 | 1 | Jul 10, 2017 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jul 10, 2017 |
| Microlissencephaly | 1 | Apr 8, 2019 |
| X-linked Alport syndrome | 8 | Feb 5, 2016 |
| Xeroderma pigmentosum group A | 2 | Jan 9, 2018 |