Sydney Children's Hospital (SCHN), SCH
General information
Sydney Children's Hospital, SCH
SCHN
High street,
Randwick
New South Wales
Australia - 2298
https://www.schn.health.nsw.gov.au/
Organization ID: 505265
SCHN
High street,
Randwick
New South Wales
Australia - 2298
https://www.schn.health.nsw.gov.au/
Organization ID: 505265
Personnel
- Elizabeth Emma Palmer, Coordinator
Phone: +61(0)2 49853100
Email: elizabeth.palmer@hnehealth.nsw.gov.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 44
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Brunner syndrome | 2 | Nov 10, 2014 |
| CLCN4-related disorder | 11 | Mar 23, 2016 |
| Congenital ATN1 related disorder | 4 | Nov 27, 2018 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 5 | Mar 15, 2021 |
| KCNT2-related condition | 1 | Jun 15, 2016 |
| SLC9A7-related neurodevelopmental disorder | 1 | Jul 11, 2018 |
| TCF20-related condition | 1 | Nov 6, 2018 |
| X-linked intellectual disability-short stature-overweight syndrome | 18 | Oct 11, 2019 |
| ZSWIM6 related intellectual disability | 1 | Aug 15, 2017 |