ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter)

dbSNP: rs1553709881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595726 SCV000703984 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing
Dobyns Lab, Seattle Children's Research Institute RCV000779638 SCV000916315 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257988 SCV001434801 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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