Submissions for variant NM_001267550.2(TTN):c.28359C>T (p.His9453=)

gnomAD frequency: 0.00007  dbSNP: rs372238447

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000865489	SCV001006467	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-05-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288912	SCV001476327	benign	not specified	2020-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840759	SCV002101939	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840760	SCV002101940	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840761	SCV002101941	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840758	SCV002101943	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540188	SCV004780871	likely benign	TTN-related disorder	2021-05-04	criteria provided, single submitter	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).