Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842714 | SCV000984744 | likely benign | not provided | 2018-05-04 | 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 | RCV001504435 | SCV001709312 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918311 | SCV004727925 | likely benign | KCNQ2-related condition | 2023-05-02 | 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). |