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 |