ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1581dup (p.Cys528fs)

dbSNP: rs2131978117
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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 RCV001374626 SCV001571231 likely pathogenic Intellectual disability, autosomal dominant 30 2021-04-13 criteria provided, single submitter clinical testing identified in an family with 3 affected

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