Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428070 | SCV000512453 | benign | not specified | 2015-03-18 | 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 | RCV000474393 | SCV000562913 | benign | Long QT syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621492 | SCV000735771 | likely benign | Cardiovascular phenotype | 2017-02-10 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |