Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000840190 | SCV000982110 | likely benign | not provided | 2018-03-15 | 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 | RCV002067519 | SCV002337479 | likely benign | Adams-Oliver syndrome 5 | 2021-12-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002067519 | SCV002554535 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271066 | SCV002554536 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |