Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000724888 | SCV000332161 | uncertain significance | not provided | 2015-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000263292 | SCV000527291 | likely benign | not specified | 2016-05-23 | 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 | RCV001081018 | SCV000640511 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001081018 | SCV001457265 | uncertain significance | Nemaline myopathy 2 | 2019-11-11 | no assertion criteria provided | clinical testing |