ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu)

dbSNP: rs794727767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179187 SCV000231394 uncertain significance not provided 2015-02-10 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000515967 SCV000611949 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515967 SCV001479377 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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