Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000081064 | SCV000112971 | benign | not specified | 2013-08-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081064 | SCV000192905 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000716393 | SCV000847233 | likely benign | History of neurodevelopmental disorder | 2016-07-22 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign) |