Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604661 | SCV000718024 | 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 | RCV002063106 | SCV002430060 | likely benign | Adams-Oliver syndrome 5 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002063106 | SCV002554513 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270759 | SCV002554514 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |