Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482137 | SCV000569561 | likely benign | not specified | 2016-03-07 | 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 | RCV003595994 | SCV001698096 | likely benign | Autosomal recessive hyper-IgE syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000482137 | SCV002068088 | uncertain significance | not specified | 2020-04-20 | criteria provided, single submitter | clinical testing |