Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288908 | SCV001476318 | uncertain significance | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003512113 | SCV004283151 | likely benign | Intellectual disability, CASK-related, X-linked | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004545183 | SCV004757231 | likely benign | CASK-related disorder | 2023-12-19 | 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). |