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

Total submissions: 6

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	not provided	2018-12-21	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