Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000080915 | SCV000112822 | likely benign | not specified | 2015-08-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080915 | SCV000196798 | likely benign | not specified | 2017-07-18 | 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. |
Illumina Clinical Services Laboratory, |
RCV000349518 | SCV000428858 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000528964 | SCV000657257 | likely benign | Bethlem myopathy 1 | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585455 | SCV000693045 | uncertain significance | not provided | 2017-10-31 | criteria provided, single submitter | clinical testing |