Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000376842 | SCV000341615 | likely benign | not specified | 2016-05-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082962 | SCV000645218 | likely benign | Severe combined immunodeficiency due to DCLRE1C deficiency | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000376842 | SCV000732685 | likely benign | not specified | 2018-02-08 | 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. |
Ce |
RCV000539574 | SCV001147831 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing |