Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601407 | SCV000722964 | likely benign | not specified | 2017-09-15 | 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 | RCV002065287 | SCV002387475 | benign | Adams-Oliver syndrome 5 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002065287 | SCV002555089 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270790 | SCV002555090 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |