ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1392C>T (p.Thr464=)

gnomAD frequency: 0.00015  dbSNP: rs368007414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087389 SCV001034924 benign Intellectual disability, CASK-related, X-linked 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891134 SCV001156007 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CASK: BP4, BP7, BS2
GeneDx RCV000891134 SCV001779905 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530970 SCV004721106 likely benign CASK-related disorder 2019-08-08 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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