Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127913 | SCV000171499 | benign | not specified | 2014-03-21 | 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 | RCV000730227 | SCV000768537 | benign | not provided | 2018-10-10 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000730227 | SCV000857948 | uncertain significance | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing |