ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2155+1G>C

dbSNP: rs1555977199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000627089 SCV000747838 likely pathogenic Syndromic X-linked intellectual disability Najm type 2018-05-15 criteria provided, single submitter clinical testing

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