Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000724293 | SCV000226604 | uncertain significance | not provided | 2014-12-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000175166 | SCV000525353 | likely benign | not specified | 2016-04-14 | 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 | RCV001087748 | SCV000648317 | benign | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 2019-12-31 | criteria provided, single submitter | clinical testing |