Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146734 | SCV000194053 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000146734 | SCV000332911 | benign | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000280349 | SCV000457304 | likely benign | Cornelia de Lange Syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000146734 | SCV000518306 | benign | not specified | 2016-04-19 | 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 | RCV000146734 | SCV000614206 | benign | not specified | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715418 | SCV000846247 | likely benign | History of neurodevelopmental disorder | 2016-04-15 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |