Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000716698 | SCV000847541 | likely benign | History of neurodevelopmental disorder | 2016-08-23 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV002534540 | SCV003335783 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-04-15 | criteria provided, single submitter | clinical testing |