Submissions for variant NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)

dbSNP: rs74315379

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036591	SCV000060246	likely benign	not specified	2012-01-06	criteria provided, single submitter	clinical testing	Arg141Arg in exon 10 of TNNT2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Arg141Arg in exon 10 of TNNT2 (allele freque ncy = n/a)
GeneDx	RCV001719732	SCV000722610	likely benign	not provided	2019-10-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768723	SCV000900093	likely benign	Cardiomyopathy	2022-08-02	criteria provided, single submitter	clinical testing
Invitae	RCV000874833	SCV001017065	benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2023-12-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768723	SCV001355069	likely benign	Cardiomyopathy	2018-11-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000874833	SCV002810848	benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2021-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003298062	SCV003988657	likely benign	Cardiovascular phenotype	2023-04-18	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.
Genome-Nilou Lab	RCV003450706	SCV004181371	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450707	SCV004181372	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450705	SCV004181374	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534772	SCV004755524	likely benign	TNNT2-related disorder	2023-10-17	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).