ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1082_1083dup (p.Phe362fs)

dbSNP: rs2071314703
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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 Leipzig Medical Center RCV001253209 SCV001428814 pathogenic Intellectual disability, autosomal dominant 29 2019-03-21 criteria provided, single submitter clinical testing

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