ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1811del (p.Leu604fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003236764 SCV003935268 pathogenic Syndromic X-linked intellectual disability Najm type criteria provided, single submitter clinical testing

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