Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081602 | SCV000113533 | benign | not specified | 2013-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081602 | SCV000240741 | benign | not specified | 2013-12-20 | 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. |
Prevention |
RCV000081602 | SCV000312076 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics | RCV000576384 | SCV000677261 | benign | Cortical dysplasia-focal epilepsy syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000576384 | SCV002333660 | benign | Cortical dysplasia-focal epilepsy syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081602 | SCV000247066 | benign | not specified | 2014-07-01 | no assertion criteria provided | clinical testing |