Submissions for variant NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)

gnomAD frequency: 0.00083  dbSNP: rs201432372

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040024	SCV000063715	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	p.Thr7164Ile in exon 84 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (27/9550) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs201432372).
Eurofins Ntd Llc (ga)	RCV000040024	SCV000114357	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000463533	SCV000555624	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040024	SCV000616033	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001703898	SCV000728907	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839552	SCV002102037	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839553	SCV002102038	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839554	SCV002102039	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839551	SCV002102040	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490553	SCV002804289	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534875	SCV004742298	likely benign	TTN-related disorder	2021-01-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000040024	SCV001978802	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001703898	SCV001979802	likely benign	not provided		no assertion criteria provided	clinical testing