Submissions for variant NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)

gnomAD frequency: 0.00014  dbSNP: rs553548392

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713984	SCV000238292	likely benign	not provided	2021-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713984	SCV000844639	benign	not provided	2018-06-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000713984	SCV000855122	uncertain significance	not provided	2017-11-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000185387	SCV000967127	benign	not specified	2018-10-24	criteria provided, single submitter	clinical testing	The p.Lys5822Arg variant in TTN is classified as benign because it has been iden tified in 0.18% (66/35238) of Latino chromosomes by gnomAD (http://gnomad.broadi nstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087209	SCV001002089	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-11-21	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000713984	SCV003827388	likely benign	not provided	2023-09-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537571	SCV004735107	likely benign	TTN-related disorder	2021-07-08	no assertion criteria provided	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).