Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608187 | SCV000721989 | likely benign | not specified | 2017-08-08 | 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 | RCV000654815 | SCV000776715 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000654815 | SCV001344349 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000608187 | SCV002511662 | uncertain significance | not specified | 2022-04-24 | criteria provided, single submitter | clinical testing |