Submissions for variant NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)

gnomAD frequency: 0.00005  dbSNP: rs375903820

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726335	SCV000343846	uncertain significance	not provided	2016-09-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000297549	SCV000530215	likely benign	not specified	2016-08-03	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	RCV001088758	SCV001008745	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348021	SCV002645949	likely benign	Cardiovascular phenotype	2020-07-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726335	SCV004150274	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486808	SCV004240118	likely benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing