Submissions for variant NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)

gnomAD frequency: 0.00702  dbSNP: rs72646833

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000040394	SCV000051463	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040394	SCV000064085	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing	2.1% (66/3130) of Afr American chrom from ESP
GeneDx	RCV000040394	SCV000169303	benign	not specified	2014-04-20	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.
Invitae	RCV000230412	SCV000286737	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246059	SCV000317922	likely benign	Cardiovascular phenotype	2012-12-07	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770005	SCV000901431	benign	Cardiomyopathy	2017-08-15	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852837	SCV000995567	benign	Cardiomyopathy; Ventricular fibrillation	2019-05-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529937	SCV001474460	benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040394	SCV001478819	likely benign	not specified	2021-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040394	SCV001879672	benign	not specified	2021-01-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839633	SCV002100451	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839634	SCV002100452	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839635	SCV002100453	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839632	SCV002100455	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529937	SCV001744292	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040394	SCV001925081	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040394	SCV001951420	benign	not specified		no assertion criteria provided	clinical testing