Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440009 | SCV000522382 | likely benign | not specified | 2016-01-09 | 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. |
Athena Diagnostics Inc | RCV000711541 | SCV000841919 | benign | not provided | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720754 | SCV000851635 | likely benign | History of neurodevelopmental disorder | 2017-04-03 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV001087784 | SCV001003488 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173175 | SCV001336255 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |