ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) (rs146220233)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194839 SCV000247225 uncertain significance not specified 2015-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000194839 SCV000518335 likely benign not specified 2018-02-12 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 RCV000649591 SCV000771420 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717758 SCV000848617 likely benign History of neurodevelopmental disorder 2016-11-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200093 SCV001370963 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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