ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1289G>A (p.Arg430His)

gnomAD frequency: 0.00020  dbSNP: rs139731261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210732 SCV000262988 uncertain significance Inborn genetic diseases 2013-11-21 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000872510 SCV001014329 benign Intellectual disability, CASK-related, X-linked 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001618347 SCV001844268 benign not provided 2019-03-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32799327)
PreventionGenetics, part of Exact Sciences RCV004541304 SCV004763478 likely benign CASK-related disorder 2023-09-25 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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