Submissions for variant NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)

gnomAD frequency: 0.00009  dbSNP: rs369466156

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697356	SCV000716205	likely benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620520	SCV000737202	likely benign	Cardiovascular phenotype	2016-11-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000868265	SCV001009574	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000614198	SCV001880212	benign	not specified	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840694	SCV002100782	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840695	SCV002100783	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840696	SCV002100784	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840693	SCV002100786	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003900376	SCV004716374	likely benign	TTN-related condition	2022-01-09	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).