Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194918 | SCV000247228 | uncertain significance | not specified | 2015-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000467298 | SCV000559781 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000194918 | SCV000613174 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000194918 | SCV000705060 | likely benign | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194918 | SCV000714027 | benign | not specified | 2017-06-02 | 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. |
Ambry Genetics | RCV000718074 | SCV000848936 | likely benign | History of neurodevelopmental disorder | 2016-07-01 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |