Submissions for variant NM_170707.4(LMNA):c.1017G>A (p.Ala339=) (rs17847242)

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

Total submissions: 10

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000172001	SCV000050978	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Ambry Genetics	RCV000244350	SCV000319141	likely benign	Cardiovascular phenotype	2013-11-20	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000276961	SCV000341229	likely benign	not specified	2016-04-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000276961	SCV000513495	likely benign	not specified	2017-08-25	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	RCV001086138	SCV000559831	benign	Charcot-Marie-Tooth disease, type 2	2019-12-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory,University of Chicago	RCV000276961	SCV000595593	likely benign	not specified	2016-06-16	criteria provided, single submitter	clinical testing
Color	RCV000771177	SCV000903109	benign	Cardiomyopathy	2018-07-10	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000172001	SCV001147459	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000771177	SCV001333641	benign	Cardiomyopathy	2018-02-07	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172634	SCV001335697	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.