ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter)

dbSNP: rs1565438488
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Total submissions: 1
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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 RCV000755108 SCV000882928 likely pathogenic Asphyxiating thoracic dystrophy 3 2016-12-07 no assertion criteria provided research

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