Submissions for variant NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)

gnomAD frequency: 0.00398  dbSNP: rs66839174

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039878	SCV000063569	benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing	p.Val4040Met in exon 51 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (121/9780) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs66839174).
Genetic Services Laboratory, University of Chicago	RCV000039878	SCV000153174	likely benign	not specified	2014-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000039878	SCV000238222	benign	not specified	2015-06-11	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	RCV000232564	SCV000286457	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839496	SCV002100060	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839497	SCV002100061	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839498	SCV002100062	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839495	SCV002100063	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039878	SCV003923260	likely benign	not specified	2023-03-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326337	SCV004033831	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TTN: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000039878	SCV001800398	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039878	SCV001922825	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039878	SCV001957857	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039878	SCV001972119	benign	not specified		no assertion criteria provided	clinical testing