Submissions for variant NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)

gnomAD frequency: 0.00718  dbSNP: rs72646851

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000040459	SCV000054966	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040459	SCV000064150	benign	not specified	2012-08-15	criteria provided, single submitter	clinical testing	Arg18441Gln in Exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (68/3122) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72646851).
GeneDx	RCV000040459	SCV000236669	benign	not specified	2014-07-09	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	RCV000229440	SCV000286771	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251094	SCV000318799	benign	Cardiovascular phenotype	2017-09-28	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769988	SCV000901414	benign	Cardiomyopathy	2023-01-09	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852827	SCV000995556	benign	Cardiomyopathy; Long QT syndrome; Heart failure	2019-06-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040459	SCV001370618	likely benign	not specified	2020-05-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040459	SCV001475799	benign	not specified	2020-07-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839661	SCV002101058	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839662	SCV002101060	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839663	SCV002101061	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839660	SCV002101062	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040459	SCV001923248	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040459	SCV001959904	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000040459	SCV001968789	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000040459	SCV001978300	benign	not specified		no assertion criteria provided	clinical testing