ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1669-7C>G

dbSNP: rs780719523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288908 SCV001476318 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing
Invitae RCV003512113 SCV004283151 likely benign Intellectual disability, CASK-related, X-linked 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545183 SCV004757231 likely benign CASK-related disorder 2023-12-19 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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