Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000724397 | SCV000231397 | uncertain significance | not provided | 2014-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179190 | SCV000715871 | likely benign | not specified | 2017-09-07 | 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 | RCV001086358 | SCV000771433 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717931 | SCV000848792 | likely benign | History of neurodevelopmental disorder | 2017-01-19 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |
Athena Diagnostics Inc | RCV000724397 | SCV001143802 | benign | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing |