Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000726315 | SCV000343705 | uncertain significance | not provided | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000312400 | SCV000428697 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000276562 | SCV000534384 | likely benign | not specified | 2016-12-07 | 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. |