Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000081109 | SCV000113017 | benign | not specified | 2013-04-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081109 | SCV000528060 | likely benign | not specified | 2017-10-06 | 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 | RCV000555761 | SCV000640514 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing |