ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs)

dbSNP: rs1555068636
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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 RCV000516139 SCV000611939 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516139 SCV001479368 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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