ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)

gnomAD frequency: 0.00005  dbSNP: rs771511132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab, University Of California Los Angeles RCV000516133 SCV000611979 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Dan Cohn Lab, University Of California Los Angeles RCV001291052 SCV000611989 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291052 SCV001479410 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516133 SCV001479568 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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