Concord Molecular Medicine Laboratory (Concord Repatriation General Hospital), CRGH-MM
General information
Personnel
- Pak Leng Cheong, Medical Director
Phone: 0297677009
Email: pak.cheong@sydney.edu.au - Marion Stoll, Variant scientist/curator
Phone: 0297677009
Email: marion.stoll@sydney.edu.au - Judith Wong, Variant scientist/curator
Phone: 0297677009
Email: judith.wong@health.nsw.gov.au - Danqing Zhu, Variant scientist/curator
Phone: 0297677009
Email: danqing.zhu@sydney.edu.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 25
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BAG3 | 1 | Nov 9, 2022 |
| CHRNE | 1 | Aug 30, 2023 |
| COLQ | 1 | Nov 23, 2022 |
| CYP7B1 | 1 | Feb 6, 2023 |
| DHTKD1 | 1 | Jan 17, 2023 |
| GAN | 1 | Feb 15, 2024 |
| GFAP | 1 | Jan 24, 2023 |
| GFPT1 | 1 | Oct 18, 2022 |
| GJB1 | 3 | Mar 22, 2024 |
| GRN | 1 | Jan 16, 2023 |
| KIF5A | 2 | Oct 19, 2022 |
| KLHL40 | 1 | Mar 19, 2024 |
| LOC130060041 | 1 | Aug 30, 2023 |
| MPZ | 1 | May 31, 2023 |
| NEK1 | 1 | Mar 5, 2024 |
| OPTN | 1 | Jan 3, 2024 |
| PMP22 | 1 | Sep 7, 2023 |
| PYGM | 1 | Nov 15, 2023 |
| SACS | 1 | Nov 26, 2023 |
| SOD1 | 1 | Jan 29, 2024 |
| SOD1-DT | 1 | Jan 29, 2024 |
| SPAST | 3 | Mar 5, 2024 |