Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087389 | SCV001034924 | benign | Intellectual disability, CASK-related, X-linked | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000891134 | SCV001156007 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CASK: BP4, BP7, BS2 |
Gene |
RCV000891134 | SCV001779905 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910586 | SCV004721106 | likely benign | CASK-related condition | 2019-08-08 | 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). |