Submissions for variant NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)

gnomAD frequency: 0.00002  dbSNP: rs370908118

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727213	SCV000706653	uncertain significance	not provided	2017-02-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000594836	SCV000715381	likely benign	not specified	2017-01-20	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.
Invitae	RCV001078978	SCV001003289	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798913	SCV002042984	likely benign	Cardiomyopathy	2020-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341527	SCV002642089	likely benign	Cardiovascular phenotype	2021-04-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen	RCV000727213	SCV004183807	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7