ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu)

dbSNP: rs1555081345
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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 RCV000516008 SCV000611972 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516008 SCV001479562 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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