Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414859 | SCV000492973 | likely pathogenic | Tricuspid regurgitation; Myopia; Mitral regurgitation; Abnormal left ventricle morphology; Aortic root aneurysm | 2014-09-12 | criteria provided, single submitter | clinical testing |