Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000726174 | SCV000342645 | uncertain significance | not provided | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000324786 | SCV000428723 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000358963 | SCV000526625 | likely benign | not specified | 2017-09-11 | 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 | RCV000527178 | SCV000657423 | likely benign | Bethlem myopathy 1 | 2017-09-12 | criteria provided, single submitter | clinical testing |