Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000592908 | SCV000708359 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717208 | SCV000848057 | likely benign | History of neurodevelopmental disorder | 2016-10-19 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign |
Natera, |
RCV001275364 | SCV001460483 | likely benign | Smith-Lemli-Opitz syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |