Submissions for variant NM_170707.4(LMNA):c.1157+16G>A

gnomAD frequency: 0.18318  dbSNP: rs534807

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041310	SCV000065002	likely benign	not specified	2008-02-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041310	SCV000113210	benign	not specified	2013-09-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041310	SCV000316399	benign	not specified		criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173416	SCV001336504	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV000057241	SCV001865555	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000057241	SCV002050263	benign	not provided	2021-01-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054500	SCV002362408	benign	Charcot-Marie-Tooth disease type 2	2024-02-01	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000030146	SCV003803674	benign	Primary dilated cardiomyopathy	2022-09-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000057241	SCV005262258	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030146	SCV000052801	benign	Primary dilated cardiomyopathy	2011-08-18	no assertion criteria provided	clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057241	SCV000088354	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041310	SCV001744217	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041310	SCV001923523	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041310	SCV001926916	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041310	SCV001955505	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041310	SCV001966366	benign	not specified		no assertion criteria provided	clinical testing