Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116796 | SCV000150835 | uncertain significance | not specified | 2016-07-12 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000724221 | SCV000233068 | uncertain significance | not provided | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116796 | SCV000724641 | likely benign | not specified | 2017-11-13 | 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 | RCV001084876 | SCV001019807 | likely benign | Bethlem myopathy 1 | 2019-12-31 | criteria provided, single submitter | clinical testing |