ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)

dbSNP: rs587783367
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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 RCV000145409 SCV000192498 uncertain significance Syndromic X-linked intellectual disability Najm type 2013-02-08 criteria provided, single submitter clinical testing
Suma Genomics RCV000145409 SCV001847691 likely pathogenic Syndromic X-linked intellectual disability Najm type criteria provided, single submitter clinical testing

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