Mitochondrial Research Group (Murdoch Children's Research Institute), MITORES_MCRI
General information
Mitochondrial Research Group, MITORES_MCRI
Murdoch Children's Research Institute
Royal Children's Hospital, 50 Flemington Rd, Parkville
Melbourne VIC
Victoria
Australia - 3052
https://www.mcri.edu.au/
Organization ID: 506250
Murdoch Children's Research Institute
Royal Children's Hospital, 50 Flemington Rd, Parkville
Melbourne VIC
Victoria
Australia - 3052
https://www.mcri.edu.au/
Organization ID: 506250
Personnel
- Alison Compton, Staff
Phone: +61408602003
Email: alison.compton@mcri.edu.au - David Thorburn, Contact
Phone: +61 3 8341 6235
Email: david.thorburn@mcri.edu.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC130058183 | 1 | Jun 29, 2017 |
| MRPL15 | 1 | Apr 4, 2022 |
| MRPL39 | 3 | Apr 4, 2022 |
| MRPS34 | 1 | Jun 29, 2017 |
| TIMMDC1 | 1 | Feb 21, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Leigh syndrome | 5 | Apr 4, 2022 |
| not specified | 1 | Apr 4, 2022 |