Submissions for variant NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)

gnomAD frequency: 0.00079  dbSNP: rs373842558

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039935	SCV000063626	benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039935	SCV000114338	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000039935	SCV000516619	benign	not specified	2016-04-13	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	RCV000462609	SCV000555621	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000039935	SCV000616015	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839528	SCV002099930	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839529	SCV002099931	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839530	SCV002099932	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839527	SCV002099934	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing