Submissions for variant NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)

gnomAD frequency: 0.00018  dbSNP: rs569860898

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126148	SCV000169641	benign	not specified	2014-05-09	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.
Ambry Genetics	RCV000243716	SCV000318245	likely benign	Cardiovascular phenotype	2013-02-11	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	RCV001079401	SCV000554991	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000126148	SCV000706063	likely benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000459880	SCV001146349	benign	not provided	2019-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000459880	SCV001153029	likely benign	not provided	2019-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840033	SCV002102041	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840034	SCV002102043	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840035	SCV002102044	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840032	SCV002102045	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126148	SCV004038626	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486658	SCV004239865	benign	Cardiomyopathy	2022-11-17	criteria provided, single submitter	clinical testing