ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) (rs137852526)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093004 SCV001249773 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
OMIM RCV000010683 SCV000030909 pathogenic X-linked hydrocephalus syndrome 2006-05-01 no assertion criteria provided literature only
OMIM RCV000010684 SCV000030910 pathogenic Corpus callosum, partial agenesis of, X-linked 2006-05-01 no assertion criteria provided literature only
Dobyns Lab,Seattle Children's Research Institute RCV000010684 SCV000916343 pathogenic Corpus callosum, partial agenesis of, X-linked 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257991 SCV001434804 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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