Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615642 | SCV000723413 | likely benign | not specified | 2017-10-02 | 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 | RCV002529727 | SCV003516984 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-06 | criteria provided, single submitter | clinical testing |