ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.600A>G (p.Val200=)

gnomAD frequency: 0.00024  dbSNP: rs147738759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145407 SCV000192496 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001518755 SCV001727512 benign Intellectual disability, CASK-related, X-linked 2023-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436956 SCV004164903 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CASK: BP4, BP7

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