Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602986 | SCV000714750 | benign | not specified | 2017-01-30 | 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 | RCV002062822 | SCV002474460 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002062822 | SCV002554884 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270726 | SCV002554885 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000602986 | SCV004029175 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |