Submissions for variant NM_170707.4(LMNA):c.726G>A (p.Ala242=)

gnomAD frequency: 0.00004  dbSNP: rs763625309

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000345591	SCV000332417	uncertain significance	not provided	2015-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV001088674	SCV000775865	likely benign	Charcot-Marie-Tooth disease type 2	2023-12-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780388	SCV000917598	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001525715	SCV001735897	likely benign	Cardiomyopathy	2020-12-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000345591	SCV001821197	likely benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379110	SCV002671507	likely benign	Cardiovascular phenotype	2019-04-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV000345591	SCV004124988	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BP7