Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231704 | SCV000631610 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603710 | SCV000727570 | likely benign | not specified | 2018-02-09 | 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. |