ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del)

dbSNP: rs1555066796
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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 RCV001291394 SCV000611913 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291394 SCV001479870 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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