Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194839 | SCV000247225 | uncertain significance | not specified | 2015-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194839 | SCV000518335 | likely benign | not specified | 2018-02-12 | 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 | RCV000649591 | SCV000771420 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717758 | SCV000848617 | likely benign | History of neurodevelopmental disorder | 2016-11-17 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Ce |
RCV001200093 | SCV001370963 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing |