Submissions for variant NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)

gnomAD frequency: 0.00001  dbSNP: rs483352833

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216648	SCV000269883	benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Asn164Asn in exon 11 of TNNT2: This variant is not expected to have clinical s ignificance because it has been identified in 0.33% (56/16512) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs483352833).
Invitae	RCV000472552	SCV000554785	benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2023-09-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000216648	SCV000730202	likely benign	not specified	2017-06-29	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	RCV000771784	SCV000904468	benign	Cardiomyopathy	2018-07-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771784	SCV001333851	benign	Cardiomyopathy	2017-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345424	SCV002646425	likely benign	Cardiovascular phenotype	2017-12-15	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	RCV003453050	SCV004181328	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453051	SCV004181330	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453049	SCV004181331	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology	RCV000119342	SCV000154239	unknown	Dilated cardiomyopathy 1DD		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.