ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1981del (p.Leu661fs)

dbSNP: rs797045431
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194542 SCV000246867 pathogenic Syndromic X-linked intellectual disability Najm type 2015-05-08 criteria provided, single submitter clinical testing

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