Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038238 | SCV000061906 | likely benign | not specified | 2009-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000038238 | SCV000730545 | likely benign | not specified | 2018-02-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001460493 | SCV001664367 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326335 | SCV004032868 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TGFBR1: PM2, BP4 |