Submissions for variant NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)

gnomAD frequency: 0.00215  dbSNP: rs79232842

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040135	SCV000063826	benign	not specified	2012-07-03	criteria provided, single submitter	clinical testing	0.7% (26/3816) of Afr Amer chrom from ESP
GeneDx	RCV000040135	SCV000169226	benign	not specified	2014-04-20	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.
Eurofins Ntd Llc (ga)	RCV000040135	SCV000225733	benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231622	SCV000286577	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040135	SCV001361744	likely benign	not specified	2019-11-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811291	SCV002048764	benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839577	SCV002101792	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839578	SCV002101793	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839579	SCV002101794	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839576	SCV002101795	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811291	SCV004152485	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7