Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432764 | SCV000516911 | likely benign | not specified | 2018-02-12 | 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. |
ARUP Laboratories, |
RCV000558116 | SCV000604919 | benign | Immunodeficiency 26 with or without neurologic abnormalities | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558116 | SCV000655356 | benign | Immunodeficiency 26 with or without neurologic abnormalities | 2019-12-31 | criteria provided, single submitter | clinical testing |