Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193352 | SCV000247221 | uncertain significance | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000193352 | SCV000528992 | likely benign | not specified | 2018-01-12 | 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 | RCV000525360 | SCV000651667 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718615 | SCV000849479 | likely benign | History of neurodevelopmental disorder | 2017-04-14 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |