Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124391 | SCV000167823 | benign | not specified | 2013-01-21 | 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. |
Genetic Services Laboratory, |
RCV000124391 | SCV000247068 | uncertain significance | not specified | 2015-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644736 | SCV000766439 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945119 | SCV004760219 | likely benign | CNTNAP2-related condition | 2019-11-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Centre de Biologie Pathologie Génétique, |
RCV001251952 | SCV001427698 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |