Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000180568 | SCV000233035 | uncertain significance | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000716638 | SCV000847480 | likely benign | History of neurodevelopmental disorder | 2016-08-18 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV001080017 | SCV001114012 | likely benign | Smith-Lemli-Opitz syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing |