Submissions for variant NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)

gnomAD frequency: 0.00027  dbSNP: rs369467841

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000518725	SCV000616117	likely benign	not specified	2017-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001697012	SCV000727346	likely benign	not provided	2020-11-17	criteria provided, single submitter	clinical testing
Invitae	RCV000863262	SCV001003894	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840622	SCV002101067	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840623	SCV002101068	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840624	SCV002101069	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840621	SCV002101071	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002455997	SCV002614064	benign	Cardiovascular phenotype	2020-07-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.