ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)

dbSNP: rs1569261319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785133 SCV000923695 pathogenic Intellectual disability, X-linked, syndromic, Houge type 2019-01-01 criteria provided, single submitter clinical testing

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