Submissions for variant NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)

gnomAD frequency: 0.00307  dbSNP: rs72648931

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039874	SCV000055072	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039874	SCV000063565	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Glu3951Gly in Exon 50 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (37/3184) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72648931).
GeneDx	RCV000039874	SCV000238220	benign	not specified	2016-08-29	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	RCV000225867	SCV000286455	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000039874	SCV000616002	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769078	SCV000900451	benign	Cardiomyopathy	2018-05-24	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000769078	SCV000995652	benign	Cardiomyopathy	2019-06-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039874	SCV001432082	likely benign	not specified	2020-08-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839492	SCV002100074	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839493	SCV002100075	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839494	SCV002100076	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839491	SCV002100077	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039874	SCV001920097	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039874	SCV001969736	benign	not specified		no assertion criteria provided	clinical testing