Submissions for variant NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)

dbSNP: rs140245123

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036567	SCV000060222	likely benign	not specified	2012-10-03	criteria provided, single submitter	clinical testing	Pro80Pro in exon 8 of TNNT2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Pro80Pro in exon 8 of TNNT2 (allele frequency = n/a)
Invitae	RCV000646076	SCV000767833	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189708	SCV001357058	likely benign	Cardiomyopathy	2018-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310894	SCV001500871	likely benign	not provided	2021-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001310894	SCV001851693	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001189708	SCV002042842	likely benign	Cardiomyopathy	2020-03-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444471	SCV002733736	likely benign	Cardiovascular phenotype	2021-12-07	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	RCV003450673	SCV004181528	benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450674	SCV004181530	benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450672	SCV004181531	benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534771	SCV004714017	likely benign	TNNT2-related disorder	2020-10-27	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	RCV001189708	SCV004823446	likely benign	Cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036567	SCV001923874	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001310894	SCV001975072	likely benign	not provided		no assertion criteria provided	clinical testing