Submissions for variant NM_170707.4(LMNA):c.1158-44C>T

gnomAD frequency: 0.00929  dbSNP: rs141879453

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233008	SCV000291546	benign	Charcot-Marie-Tooth disease type 2	2025-01-06	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000275328	SCV000331139	benign	not specified	2016-12-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000057247	SCV000610310	benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000057247	SCV000975141	benign	not provided	2018-06-14	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000057247	SCV001472451	benign	not provided	2021-02-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000057247	SCV002496939	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	LMNA: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000057247	SCV005282282	benign	not provided		criteria provided, single submitter	not provided
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057247	SCV000088360	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000275328	SCV001932067	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000057247	SCV001952014	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537255	SCV004733439	benign	LMNA-related disorder	2019-10-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).