ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2325C>T (p.Thr775=)

gnomAD frequency: 0.00001  dbSNP: rs760957859
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192500 SCV000246871 uncertain significance not specified 2015-07-23 criteria provided, single submitter clinical testing
Invitae RCV001512424 SCV001719848 benign Intellectual disability, CASK-related, X-linked 2023-11-27 criteria provided, single submitter clinical testing

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