Submissions for variant NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)

gnomAD frequency: 0.00009  dbSNP: rs376923877

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036620	SCV000060275	likely benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing	p.Asn269Asn in exon 15 of TNNT2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/29960 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs376923877).
Eurofins Ntd Llc (ga)	RCV000724379	SCV000226234	uncertain significance	not provided	2015-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000036620	SCV000533746	likely benign	not specified	2017-06-13	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.
Color Diagnostics, LLC DBA Color Health	RCV000777961	SCV000914062	likely benign	Cardiomyopathy	2018-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV001078486	SCV001009150	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415466	SCV002677582	likely benign	Cardiovascular phenotype	2018-07-31	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777961	SCV004239781	likely benign	Cardiomyopathy	2023-01-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541103	SCV004758810	likely benign	TNNT2-related disorder	2020-04-01	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).
All of Us Research Program, National Institutes of Health	RCV000777961	SCV004815041	likely benign	Cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036620	SCV001920835	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000724379	SCV001957036	likely benign	not provided		no assertion criteria provided	clinical testing