Submissions for variant NM_170707.4(LMNA):c.1761G>A (p.Leu587=)

gnomAD frequency: 0.00210  dbSNP: rs80356813

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041331	SCV000065024	benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing	p.Leu587Leu in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (36/5272) of Finnish chromosomes and 0.3% (187/59480) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs80356813).
Eurofins Ntd Llc (ga)	RCV000041331	SCV000114726	likely benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
Invitae	RCV001085192	SCV000291553	benign	Charcot-Marie-Tooth disease type 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041331	SCV000316407	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249377	SCV000318704	likely benign	Cardiovascular phenotype	2015-10-02	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.
Genetic Services Laboratory, University of Chicago	RCV000041331	SCV000595613	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710161	SCV000614026	benign	not provided	2017-10-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000030149	SCV000901154	benign	Cardiomyopathy	2016-02-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000030149	SCV000910777	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172632	SCV001335695	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710161	SCV001746873	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BS2
GeneDx	RCV000710161	SCV001941598	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996128	SCV004831189	benign	Primary dilated cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030149	SCV000052804	benign	Cardiomyopathy	2015-05-20	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041331	SCV001744437	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041331	SCV001917059	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041331	SCV001930647	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041331	SCV001959722	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710161	SCV001975391	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000041331	SCV002035596	benign	not specified		no assertion criteria provided	clinical testing