Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418254 | SCV000532736 | likely benign | not specified | 2016-10-14 | 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 | RCV003522975 | SCV004369179 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-07-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003522975 | SCV004819792 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-03-09 | criteria provided, single submitter | clinical testing |