Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000249758 | SCV000304576 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000249758 | SCV000718073 | likely benign | not specified | 2017-04-04 | 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 | RCV002057367 | SCV002403133 | benign | Supravalvar aortic stenosis | 2023-11-18 | criteria provided, single submitter | clinical testing |