Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193244 | SCV000247547 | likely benign | not specified | 2016-11-18 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000193244 | SCV000340014 | benign | not specified | 2016-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000193244 | SCV000589917 | likely benign | not specified | 2017-07-05 | 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 | RCV000969004 | SCV001116495 | likely benign | Mental retardation 3, X-linked | 2019-12-31 | criteria provided, single submitter | clinical testing |