Submissions for variant NM_170707.4(LMNA):c.1098G>A (p.Lys366=)

gnomAD frequency: 0.00002  dbSNP: rs57901307

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500477	SCV000595625	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000057231	SCV000701838	uncertain significance	not provided	2016-10-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001178173	SCV001342549	likely benign	Cardiomyopathy	2018-12-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000057231	SCV001473506	likely benign	not provided	2020-04-17	criteria provided, single submitter	clinical testing
Invitae	RCV001437348	SCV001640201	likely benign	Charcot-Marie-Tooth disease type 2	2023-11-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000057231	SCV001746872	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453371	SCV002737584	likely benign	Cardiovascular phenotype	2021-07-03	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.
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057231	SCV000088344	not provided	not provided		no assertion provided	not provided