Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609341 | SCV000724093 | likely benign | not specified | 2017-10-26 | 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 | RCV003514387 | SCV004353537 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2022-11-03 | criteria provided, single submitter | clinical testing |