ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)

dbSNP: rs587777479
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Total submissions: 2
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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 RCV000128428 SCV001429511 uncertain significance Intellectual disability, autosomal dominant 27 2017-10-30 criteria provided, single submitter clinical testing
OMIM RCV000128428 SCV000172109 pathogenic Intellectual disability, autosomal dominant 27 2014-06-02 no assertion criteria provided literature only

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