ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)

gnomAD frequency: 0.00001  dbSNP: rs758155107
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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 RCV000516047 SCV000612021 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516047 SCV001479898 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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