Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000176860 | SCV000228617 | benign | not specified | 2015-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000556046 | SCV000657182 | benign | Bethlem myopathy 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176860 | SCV000714631 | likely benign | not specified | 2017-10-30 | 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. |