Submissions for variant NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)

gnomAD frequency: 0.00006  dbSNP: rs200283086

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421489	SCV000514924	benign	not specified	2015-04-23	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.
Ambry Genetics	RCV000619052	SCV000736989	likely benign	Cardiovascular phenotype	2016-04-18	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.
Color Diagnostics, LLC DBA Color Health	RCV001175627	SCV001339298	likely benign	Cardiomyopathy	2019-07-09	criteria provided, single submitter	clinical testing
Invitae	RCV001448267	SCV001651352	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2023-12-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001175627	SCV002042862	likely benign	Cardiomyopathy	2020-06-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449046	SCV004183046	benign	Dilated cardiomyopathy 1D	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449047	SCV004183058	benign	Cardiomyopathy, familial restrictive, 3	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449045	SCV004183069	benign	Hypertrophic cardiomyopathy 2	2023-11-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884522	SCV004699124	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TNNT2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV001175627	SCV004823971	likely benign	Cardiomyopathy	2024-01-03	criteria provided, single submitter	clinical testing