Submissions for variant NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) (rs199679500)

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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	RCV000192449	SCV000247200	benign	not specified	2017-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV000558470	SCV000651595	benign	Charcot-Marie-Tooth disease, axonal, type 2O	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000192449	SCV000725899	likely benign	not specified	2017-12-26	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	RCV000717030	SCV000847875	likely benign	History of neurodevelopmental disorder	2016-09-20	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173876	SCV001336992	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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