Sangiuolo Lab - Medical Genetics Laboratory (Tor Vergata University), SL-MGL-TV
General information
Personnel
- Valentina Ferradini, Staff
Phone: +39 3493536008
Email: ferradini@med.uniroma2.it - Ruggiero Mango, Staff
Phone: +39 3929094781
Email: Ruggiero.mango@gmail.com - Liliana Mannucci, Staff
Phone: +39 0672596090
Email: liliana.mannucci@ptvonline.it - Federica Sangiuolo, Principal Investigator
Phone: +39 0672596164
Email: sangiuolo@med.uniroma2.it
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 70
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTG1 | 1 | Oct 4, 2022 |
| DSP | 8 | Jan 27, 2023 |
| DSP-AS1 | 1 | Jan 27, 2023 |
| FBN1 | 48 | Jun 19, 2019 |
| LMNA | 11 | May 7, 2021 |
| LOC126805877 | 1 | May 7, 2021 |
| LOC126861898 | 2 | Apr 27, 2021 |
| MYH7 | 2 | Apr 27, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arrhythmogenic cardiomyopathy | 10 | Jan 27, 2023 |
| Baraitser-winter syndrome 2 | 1 | Oct 4, 2022 |
| Dilated cardiomyopathy 1A | 11 | May 7, 2021 |
| MASS syndrome | 1 | Jun 19, 2019 |
| Marfan syndrome | 47 | Jun 19, 2019 |