ClinVar Miner

Submissions for variant NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) (rs189806840)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000726077 SCV000883761 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735390 SCV000854545 uncertain significance Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough criteria provided, single submitter clinical testing
Dan Cohn Lab,University Of California Los Angeles RCV000231556 SCV000611918 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726077 SCV000341784 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000406282 SCV000729022 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000406282 SCV000594461 uncertain significance not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000231556 SCV000285824 likely benign Jeune thoracic dystrophy 2017-04-17 criteria provided, single submitter clinical testing

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