ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1668+10T>C

gnomAD frequency: 0.00003  dbSNP: rs751395675
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Total submissions: 2
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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
PreventionGenetics, part of Exact Sciences 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).

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