Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723689 | SCV000113525 | uncertain significance | not provided | 2013-07-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000186623 | SCV000167821 | benign | not specified | 2014-03-13 | 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 | RCV001088926 | SCV001006633 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003964936 | SCV004783053 | likely benign | CNTNAP2-related condition | 2023-12-05 | 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). |