Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421905 | SCV000528858 | likely benign | not specified | 2017-03-21 | 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. |
Athena Diagnostics Inc | RCV000421905 | SCV000613963 | benign | not specified | 2016-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000654778 | SCV000776677 | benign | Laminin alpha 2-related dystrophy | 2017-11-27 | criteria provided, single submitter | clinical testing |