ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) (rs149753029)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720825 SCV000851709 likely benign History of neurodevelopmental disorder 2017-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000711542 SCV000841920 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000440743 SCV000536076 likely benign not specified 2017-10-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000368249 SCV000385119 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276047 SCV000385120 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314785 SCV000385121 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540235 SCV000651674 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-11-10 criteria provided, single submitter clinical testing

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