ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1669-9C>A

gnomAD frequency: 0.00003  dbSNP: rs562152407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285805 SCV000336186 benign not specified 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001712002 SCV000518272 benign not provided 2019-10-30 criteria provided, single submitter clinical testing
Invitae RCV000920192 SCV001065552 benign Intellectual disability, CASK-related, X-linked 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543033 SCV004788056 likely benign CASK-related disorder 2019-02-24 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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