ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3097-4A>G (rs368802969)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000199922 SCV000611950 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176276 SCV000227906 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000176276 SCV000714437 benign not specified 2017-03-29 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.
Invitae RCV000199922 SCV000252739 benign Jeune thoracic dystrophy 2016-06-22 criteria provided, single submitter clinical testing

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