ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2879T>G (p.Leu960Arg)

dbSNP: rs2145108363
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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 RCV001376162 SCV001573213 likely pathogenic Intellectual disability, autosomal dominant 29 criteria provided, single submitter clinical testing

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