Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188092 | SCV000241696 | likely benign | not specified | 2017-11-07 | 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 | RCV000530172 | SCV000645787 | benign | Mental retardation, autosomal dominant 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717527 | SCV000848380 | likely benign | History of neurodevelopmental disorder | 2018-08-14 | criteria provided, single submitter | clinical testing | Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign) |