Submissions for variant NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) (rs112811548)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 5

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440009	SCV000522382	likely benign	not specified	2016-01-09	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.
Athena Diagnostics Inc	RCV000711541	SCV000841919	benign	not provided	2017-10-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000720754	SCV000851635	likely benign	History of neurodevelopmental disorder	2017-04-03	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Invitae	RCV001087784	SCV001003488	likely benign	Charcot-Marie-Tooth disease, axonal, type 2O	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173175	SCV001336255	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.