Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000282092 | SCV000345489 | benign | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000282092 | SCV000728681 | benign | not specified | 2017-04-24 | 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 | RCV000642201 | SCV000763855 | benign | Baraitser-Winter syndrome 1 | 2017-10-19 | criteria provided, single submitter | clinical testing |