Submissions for variant NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) (rs202023896)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526287	SCV000651670	likely benign	Charcot-Marie-Tooth disease, axonal, type 2O	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000600529	SCV000719566	likely benign	not specified	2017-05-24	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	RCV000720397	SCV000851274	likely benign	History of neurodevelopmental disorder	2016-10-03	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173182	SCV001336262	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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