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

Total submissions: 8

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	RCV000172001	SCV000559831	benign	not provided	2019-02-14	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