Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000310624 | SCV000333799 | uncertain significance | not provided | 2015-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464806 | SCV001668781 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000310624 | SCV001939455 | likely benign | not provided | 2018-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897606 | SCV004714821 | likely benign | CNTNAP2-related condition | 2022-03-18 | 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). |