ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)

dbSNP: rs797045178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000191046 SCV000246120 pathogenic Intellectual disability, autosomal dominant 13 2015-05-19 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291061 SCV001479424 likely pathogenic Lissencephaly no assertion criteria provided research

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