Submissions for variant NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)

gnomAD frequency: 0.00001  dbSNP: rs200604266

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704825	SCV000730717	likely benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV000867715	SCV001008972	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2023-08-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179555	SCV001344247	likely benign	Cardiomyopathy	2019-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331089	SCV002630700	likely benign	Cardiovascular phenotype	2019-08-16	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.
Fulgent Genetics, Fulgent Genetics	RCV000867715	SCV002810732	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2021-09-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451447	SCV004181378	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451448	SCV004181379	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451446	SCV004181380	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001179555	SCV004239776	likely benign	Cardiomyopathy	2023-01-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000601537	SCV001919849	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000601537	SCV001953736	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704825	SCV001968364	likely benign	not provided		no assertion criteria provided	clinical testing