Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127241 | SCV000170796 | benign | not specified | 2013-05-13 | 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, |
RCV000127241 | SCV000248274 | uncertain significance | not specified | 2015-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082810 | SCV000651810 | benign | Pitt-Hopkins-like syndrome 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712449 | SCV000842945 | likely benign | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717983 | SCV000848844 | likely benign | History of neurodevelopmental disorder | 2017-01-17 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |