Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419108 | SCV000530615 | likely benign | not specified | 2016-08-05 | 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. |
Eurofins Ntd Llc |
RCV000731561 | SCV000859399 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001410971 | SCV001613027 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-21 | criteria provided, single submitter | clinical testing |