Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002131197 | SCV002452310 | benign | Intellectual disability, CASK-related, X-linked | 2023-07-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004531481 | SCV004720977 | likely benign | CASK-related disorder | 2024-01-26 | 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). |