ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) (rs145487328)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193352 SCV000247221 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000193352 SCV000528992 likely benign not specified 2018-01-12 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 RCV000525360 SCV000651667 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718615 SCV000849479 likely benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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