Submissions for variant NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)

gnomAD frequency: 0.00001  dbSNP: rs1180516886

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174789	SCV001338127	likely benign	not specified	2020-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183180	SCV001348837	likely benign	Cardiomyopathy	2019-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV002068127	SCV002442222	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402524	SCV002707574	likely benign	Cardiovascular phenotype	2020-08-02	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	RCV003449569	SCV004177969	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449570	SCV004177970	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449568	SCV004177971	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing