Submissions for variant NM_170707.4(LMNA):c.1311C>T (p.Ser437=)

gnomAD frequency: 0.00004  dbSNP: rs763224059

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726198	SCV000342837	uncertain significance	not provided	2016-06-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000377625	SCV000715416	likely benign	not specified	2017-01-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087891	SCV001006835	likely benign	Charcot-Marie-Tooth disease type 2	2025-01-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183042	SCV001348692	likely benign	Cardiomyopathy	2019-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379144	SCV002694427	likely benign	Cardiovascular phenotype	2018-09-29	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.
All of Us Research Program, National Institutes of Health	RCV003995786	SCV004823242	likely benign	Primary dilated cardiomyopathy	2023-12-18	criteria provided, single submitter	clinical testing