ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1669-8C>G

gnomAD frequency: 0.00007  dbSNP: rs201327474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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
PreventionGenetics, part of Exact Sciences RCV004543388 SCV004757970 likely benign CASK-related disorder 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).

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