Submissions for variant NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)

gnomAD frequency: 0.00108  dbSNP: rs371026448

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039886	SCV000063577	benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039886	SCV000114331	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000039886	SCV000515094	benign	not specified	2015-08-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473791	SCV000555179	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000039886	SCV000616006	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811284	SCV002048335	benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839508	SCV002100038	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839509	SCV002100039	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839510	SCV002100040	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839507	SCV002100041	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039886	SCV002571831	likely benign	not specified	2022-08-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811284	SCV004148130	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7