ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)

gnomAD frequency: 0.00001  dbSNP: rs756811136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab, University Of California Los Angeles RCV001291290 SCV000612009 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291290 SCV001479743 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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