ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1669-6dup

dbSNP: rs746809939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088617 SCV000647903 benign Intellectual disability, CASK-related, X-linked 2023-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000540173 SCV001156005 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000540173 SCV001829669 likely benign not provided 2023-02-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001821563 SCV002067064 uncertain significance not specified 2018-04-13 criteria provided, single submitter clinical testing

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