Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000177322 | SCV000229169 | likely benign | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000177322 | SCV000247677 | likely benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177322 | SCV000524198 | benign | not specified | 2016-02-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000469009 | SCV000563648 | benign | Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717634 | SCV000848488 | likely benign | Seizures | 2016-10-05 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |