ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter)

dbSNP: rs1256783641
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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 Hospital Muenster RCV001807537 SCV002054117 likely pathogenic Global developmental delay; Language disorder 2021-12-05 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,BS4

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