ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1224A>G (p.Arg408=)

dbSNP: rs1555989321
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597422 SCV000702629 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV001409666 SCV001611698 likely benign Intellectual disability, CASK-related, X-linked 2023-03-13 criteria provided, single submitter clinical testing

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