Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000726005 | SCV000341180 | uncertain significance | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000399555 | SCV000524743 | likely benign | not specified | 2016-03-10 | 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 | RCV001085607 | SCV000768923 | likely benign | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 2019-12-31 | criteria provided, single submitter | clinical testing |