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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