Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439364 | SCV000530208 | likely benign | not specified | 2016-07-22 | 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. |
Genetic Services Laboratory, |
RCV000439364 | SCV000595057 | likely benign | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002522410 | SCV003263726 | likely benign | Intellectual disability, autosomal dominant 8 | 2023-06-05 | criteria provided, single submitter | clinical testing |