Miami Human Genetics (University Of Miami Miller School Of Medicine), MHG
General information
Personnel
- Guney Bademci, Lab Associate Director
Phone: 7867597225
Email: g.bademci@med.miami.edu - Mustafa Tekin, Principal Investigator
Phone: 3057935386
Email: mtekin@med.miami.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 4A | 5 | Jun 5, 2023 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Oct 26, 2020 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Nov 24, 2015 |
| Triglyceride storage disease with ichthyosis | 2 | Nov 1, 2023 |