Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597316 | SCV000708913 | uncertain significance | not provided | 2017-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001514602 | SCV001722486 | benign | Intellectual disability, CASK-related, X-linked | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945442 | SCV004757970 | likely benign | CASK-related condition | 2021-06-30 | 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). |