Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000285805 | SCV000336186 | benign | not specified | 2015-10-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712002 | SCV000518272 | benign | not provided | 2019-10-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000920192 | SCV001065552 | benign | Intellectual disability, CASK-related, X-linked | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977761 | SCV004788056 | likely benign | CASK-related condition | 2019-02-24 | 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). |