Submissions for variant NM_170707.4(LMNA):c.1785C>T (p.Ala595=)

gnomAD frequency: 0.00001  dbSNP: rs748139390

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544787	SCV000657808	likely benign	Charcot-Marie-Tooth disease type 2	2024-10-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776320	SCV000911653	likely benign	Cardiomyopathy	2018-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702808	SCV002496941	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LMNA: BP4, BP7
Ambry Genetics	RCV002413637	SCV002714979	likely benign	Cardiovascular phenotype	2019-03-28	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	RCV003999469	SCV004826818	likely benign	Primary dilated cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702808	SCV001929207	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702808	SCV001970247	likely benign	not provided		no assertion criteria provided	clinical testing