Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147599 | SCV000195048 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000147599 | SCV000233092 | benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000147599 | SCV000311077 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000387787 | SCV000360299 | likely benign | Cornelia de Lange Syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000547458 | SCV000641112 | benign | Cornelia de Lange syndrome 3 | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715195 | SCV000846023 | likely benign | History of neurodevelopmental disorder | 2017-03-28 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification |