Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242708 | SCV000307348 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000242708 | SCV000337964 | benign | not specified | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000532781 | SCV000640784 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000242708 | SCV000724986 | likely benign | not specified | 2017-11-27 | 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. |