Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000712380 | SCV000331359 | uncertain significance | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000485611 | SCV000568028 | likely benign | not specified | 2015-09-29 | 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 | RCV001082110 | SCV000640581 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712380 | SCV000842857 | likely benign | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001082110 | SCV001458314 | likely benign | Nemaline myopathy 2 | 2020-01-06 | no assertion criteria provided | clinical testing |