ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) (rs34338935)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194918 SCV000247228 uncertain significance not specified 2015-01-21 criteria provided, single submitter clinical testing
Invitae RCV000467298 SCV000559781 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000194918 SCV000613174 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194918 SCV000705060 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000194918 SCV000714027 benign not specified 2017-06-02 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.
Ambry Genetics RCV000718074 SCV000848936 likely benign History of neurodevelopmental disorder 2016-07-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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