Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000178352 | SCV000230418 | likely benign | not specified | 2014-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178352 | SCV000513040 | likely benign | not specified | 2018-01-23 | 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 | RCV000471527 | SCV000559438 | benign | Walker-Warburg congenital muscular dystrophy | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000178352 | SCV000613310 | benign | not specified | 2017-06-14 | criteria provided, single submitter | clinical testing |