Submissions for variant NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)

gnomAD frequency: 0.00005  dbSNP: rs45503195

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774307	SCV000908009	likely benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000774307	SCV001333648	likely benign	Cardiomyopathy	2018-02-07	criteria provided, single submitter	clinical testing
Invitae	RCV001438022	SCV001640889	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002440608	SCV002676633	likely benign	Cardiovascular phenotype	2022-09-26	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	RCV003453602	SCV004180495	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453603	SCV004180496	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453601	SCV004180498	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing