ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg)

dbSNP: rs774610143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796218 SCV005417188 uncertain significance Asphyxiating thoracic dystrophy 3 criteria provided, single submitter clinical testing PM2_Supporting+PM3+PP4+PP1
Dan Cohn Lab, University Of California Los Angeles RCV000516114 SCV000611936 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516114 SCV001479889 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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