Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193451 | SCV000247519 | likely benign | not specified | 2015-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840921 | SCV000982867 | likely benign | not provided | 2018-03-21 | 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 | RCV002517077 | SCV003280672 | likely benign | Intellectual disability, autosomal dominant 8 | 2022-08-03 | criteria provided, single submitter | clinical testing |