Submissions for variant NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)

gnomAD frequency: 0.00001  dbSNP: rs754211195

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000646079	SCV000767836	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2017-12-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190906	SCV001358541	likely benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001613422	SCV001839076	likely benign	not provided	2019-03-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424483	SCV002679335	likely benign	Cardiovascular phenotype	2020-06-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003451543	SCV004180502	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451544	SCV004180503	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451542	SCV004180504	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing