ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)

dbSNP: rs387906705
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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 RCV000022833 SCV000192481 pathogenic Syndromic X-linked intellectual disability Najm type 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000022833 SCV000044122 pathogenic Syndromic X-linked intellectual disability Najm type 2011-11-01 no assertion criteria provided literature only

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