Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192449 | SCV000247200 | benign | not specified | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558470 | SCV000651595 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000192449 | SCV000725899 | likely benign | not specified | 2017-12-26 | 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 | RCV000717030 | SCV000847875 | likely benign | History of neurodevelopmental disorder | 2016-09-20 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |
Molecular Genetics Laboratory, |
RCV001173876 | SCV001336992 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |