ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2604+1G>T

dbSNP: rs1555972599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000502216 SCV000590906 pathogenic Syndromic X-linked intellectual disability Najm type 2017-07-19 criteria provided, single submitter clinical testing

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