SingHealth Duke-NUS Institute of Precision Medicine (SingHealth), PRISM
General information
SingHealth Duke-NUS Institute of Precision Medicine, PRISM
SingHealth
9 College Drive
Singapore
Singapore - 1696016
https://research.singhealth.com.sg/Pages/PRISM-Overview.aspx
Organization ID: 506534
SingHealth
9 College Drive
Singapore
Singapore - 1696016
https://research.singhealth.com.sg/Pages/PRISM-Overview.aspx
Organization ID: 506534
Personnel
- Yasmin Bylstra, Genetic Counselor
Phone: +65 8499 7371
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 82
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACAT1 | 1 | Apr 9, 2018 |
| AGA | 1 | Apr 9, 2018 |
| AGA-DT | 1 | Apr 9, 2018 |
| AMN | 1 | Apr 9, 2018 |
| APTX | 1 | Apr 9, 2018 |
| ARSA | 2 | Apr 9, 2018 |
| ATP7B | 4 | Apr 9, 2018 |
| BCKDHB | 1 | Apr 9, 2018 |
| BTD | 3 | Apr 9, 2018 |
| COQ2 | 3 | Apr 9, 2018 |
| COQ8A | 3 | Apr 9, 2018 |
| CPS1 | 2 | Apr 9, 2018 |
| CUBN | 4 | Apr 9, 2018 |
| CYP27A1 | 1 | Apr 9, 2018 |
| DBT | 2 | Apr 9, 2018 |
| DHCR7 | 1 | Apr 9, 2018 |
| ETFA | 1 | Apr 9, 2018 |
| ETFB | 3 | Apr 9, 2018 |
| ETFDH | 2 | Apr 9, 2018 |
| FOLR1 | 1 | Apr 9, 2018 |
| GCDH | 1 | Apr 9, 2018 |
| GLDC | 1 | Apr 9, 2018 |
| GUSB | 2 | Apr 9, 2018 |
| HLCS | 2 | Apr 9, 2018 |
| HMGCS2 | 1 | Apr 9, 2018 |
| IDUA | 1 | Apr 9, 2018 |
| IVD | 2 | Apr 9, 2018 |
| LOC112997540 | 1 | Apr 9, 2018 |
| LOC126862860 | 1 | Apr 9, 2018 |
| LOC129993881 | 1 | Apr 9, 2018 |
| MAN2B1 | 2 | Apr 9, 2018 |
| MMACHC | 2 | Apr 9, 2018 |
| MMUT | 3 | Apr 9, 2018 |
| MOCS1 | 1 | Apr 9, 2018 |
| MOCS2 | 1 | Apr 9, 2018 |
| MTHFR | 1 | Apr 9, 2018 |
| NAGLU | 2 | Apr 9, 2018 |
| NAGS | 1 | Apr 9, 2018 |
| NPC1 | 1 | Apr 9, 2018 |
| OTC | 2 | Apr 9, 2018 |
| OXCT1 | 1 | Apr 9, 2018 |
| PAH | 2 | Apr 9, 2018 |
| PDHA1 | 2 | Apr 9, 2018 |
| PDHX | 1 | Apr 9, 2018 |
| PTS | 2 | Apr 9, 2018 |
| SLC19A3 | 1 | Apr 9, 2018 |
| SLC25A13 | 4 | Apr 9, 2018 |
| SLC2A1 | 1 | Apr 9, 2018 |
| SPR | 1 | Apr 9, 2018 |
| SYCE2 | 1 | Apr 9, 2018 |
| TAT | 1 | Apr 9, 2018 |
| TAT-AS1 | 1 | Apr 9, 2018 |
| TH | 3 | Apr 9, 2018 |