Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000718402 | SCV000849265 | likely benign | History of neurodevelopmental disorder | 2017-04-19 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV000867419 | SCV001008640 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing |