Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459667 | SCV000559800 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605259 | SCV000723145 | likely benign | not specified | 2017-09-25 | 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 | RCV000719151 | SCV000850016 | likely benign | History of neurodevelopmental disorder | 2016-05-24 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |