ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)

dbSNP: rs587784241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147010 SCV000194350 pathogenic Lissencephaly due to LIS1 mutation 2013-02-08 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002273962 SCV002559015 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291190 SCV001479613 likely pathogenic Lissencephaly no assertion criteria provided research

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