Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124069 | SCV000167478 | likely benign | not specified | 2017-12-27 | 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. |
Illumina Clinical Services Laboratory, |
RCV000310705 | SCV000377770 | likely benign | Timothy syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000365427 | SCV000377771 | likely benign | Brugada syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460955 | SCV000562914 | likely benign | Long QT syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000124069 | SCV001442775 | benign | not specified | 2020-10-31 | criteria provided, single submitter | clinical testing |