ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) (rs184256941)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756063 SCV000883776 uncertain significance not provided 2017-11-12 criteria provided, single submitter clinical testing
Dan Cohn Lab,University Of California Los Angeles RCV000516070 SCV000611947 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research

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