Submissions for variant NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)

dbSNP: rs530291008

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000259591	SCV000339148	uncertain significance	not provided	2016-01-21	criteria provided, single submitter	clinical testing
Invitae	RCV001079023	SCV001010985	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001526958	SCV001737731	likely benign	not specified	2021-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000259591	SCV001858991	likely benign	not provided	2018-10-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348002	SCV002649189	likely benign	Cardiovascular phenotype	2021-06-06	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.
PreventionGenetics, part of Exact Sciences	RCV003920099	SCV004735048	likely benign	TTN-related condition	2020-11-02	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).