Submissions for variant NM_170707.4(LMNA):c.789G>A (p.Leu263=)

gnomAD frequency: 0.00048  dbSNP: rs148557956

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041367	SCV000065060	likely benign	not specified	2009-10-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000041367	SCV000234657	benign	not specified	2014-09-23	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.
PreventionGenetics, part of Exact Sciences	RCV000041367	SCV000316413	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000723485	SCV000331149	uncertain significance	not provided	2017-01-05	criteria provided, single submitter	clinical testing
Invitae	RCV001085667	SCV000559818	likely benign	Charcot-Marie-Tooth disease type 2	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617711	SCV000737206	likely benign	Cardiovascular phenotype	2016-11-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV001178117	SCV001342473	likely benign	Cardiomyopathy	2018-12-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041367	SCV001448346	likely benign	not specified	2020-11-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001178117	SCV002041925	benign	Cardiomyopathy	2019-08-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723485	SCV002049162	likely benign	not provided	2021-05-22	criteria provided, single submitter	clinical testing