LDLR-LOVD, British Heart Foundation, Department of Cardiovascular Genetics (University College London)
General information
Personnel
- Sarah Leigh, Variant scientist/curator
Phone: 447941691115
Email: sarah.leigh@genomicsengland.co.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1686
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LDLR | 1686 | Feb 19, 2024 |
| LDLR-AS1 | 62 | Apr 20, 2016 |
| LOC126862855 | 1 | Apr 20, 2016 |
| MIR6886 | 8 | Apr 20, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Familial hypercholesterolemia | 2 | Feb 19, 2024 |
| Hypercholesterolemia, familial, 1 | 1684 | Feb 19, 2024 |