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

gnomAD frequency: 0.00048  dbSNP: rs117939448

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000041337	SCV000316408	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	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	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619457	SCV000737977	likely benign	Cardiovascular phenotype	2017-04-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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 Diagnostics, LLC DBA Color Health	RCV001170983	SCV001342457	benign	Cardiomyopathy	2018-07-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	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
CeGaT Center for Human Genetics Tuebingen	RCV001529866	SCV002062835	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003996461	SCV004829560	benign	Primary dilated cardiomyopathy	2024-02-05	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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529866	SCV001951034	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529866	SCV002035450	likely benign	not provided		no assertion criteria provided	clinical testing