Exeter Molecular Genetics Laboratory
General information
Exeter Molecular Genetics Laboratory
RILD Level 3
Royal Devon & Exeter NHS Foundation Trust
Exeter
Devon
United Kingdom - EX2 5DW
http://www.exeterlaboratory.com/
Organization ID: 229552
RILD Level 3
Royal Devon & Exeter NHS Foundation Trust
Exeter
Devon
United Kingdom - EX2 5DW
http://www.exeterlaboratory.com/
Organization ID: 229552
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HNF4A | 6 | Oct 12, 2021 |
| PPP1R13L | 7 | Jun 10, 2020 |
| R3HDML-AS1 | 2 | Oct 12, 2021 |
| ROR2 | 1 | May 10, 2021 |
| TRPV6 | 1 | Mar 12, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive Robinow syndrome | 1 | May 10, 2021 |
| Embryonic calcium dysregulation | 1 | Mar 12, 2020 |
| Hyperparathyroidism | 1 | Mar 12, 2020 |
| Maturity-onset diabetes of the young type 1 | 6 | Oct 12, 2021 |
| Metaphyseal fractures | 1 | Mar 12, 2020 |
| Primary dilated cardiomyopathy | 7 | Jun 10, 2020 |
| Slender long bone | 1 | Mar 12, 2020 |