Submissions for variant NM_170707.4(LMNA):c.1911C>T (p.Phe637=) (rs117939448)

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000041337	SCV000065030	likely benign	not specified	2012-01-05	criteria provided, single submitter	clinical testing	Phe637Phe in exon 11 of LMNA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been identified in 0.3% (7/23 34) of chromosomes from a broad, though clinically and racially unspecified popu lation (dbSNP rs117939448) and in 3/3738 African American chromosomes in a borad and clinically unspecified cohort (http://evs.gs.washington.edu/EVS). Phe637Ph e in exon 11 of LMNA (rs117939448; 0.3%, 7/2334)
PreventionGenetics,PreventionGenetics	RCV000041337	SCV000316408	likely benign	not specified		criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000041337	SCV000339229	likely benign	not specified	2016-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000473263	SCV000559819	benign	Charcot-Marie-Tooth disease, type 2	2020-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619457	SCV000737977	likely benign	Cardiovascular phenotype	2017-04-07	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV001170983	SCV001333646	benign	Cardiomyopathy	2017-11-03	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173400	SCV001336488	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Color Health, Inc	RCV001170983	SCV001342457	benign	Cardiomyopathy	2018-07-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000041337	SCV001476538	benign	not specified	2020-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001529866	SCV001858964	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529866	SCV001744067	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics,Academic Medical Center	RCV000041337	SCV001919568	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529866	SCV001932765	likely benign	not provided		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV001529866	SCV001951034	likely benign	not provided		no assertion criteria provided	clinical testing