Submissions for variant NM_001276345.2(TNNT2):c.601-8C>T

gnomAD frequency: 0.00006  dbSNP: rs397516475

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036605	SCV000060260	uncertain significance	not specified	2010-09-01	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Pathogenic. The 571-8C>T va riant has not been reported in the literature. We have identified it in one HCM proband in our laboratory. It is located in the 3' splice region but does not affect the highly conserved -1 and -2 positions. However, positions -3 and -5 t o -12 are part of the splicing consensus sequence and variants involving these p ositions sometimes affect splicing. Therefore, the clinical significance of thi s variant cannot be determined at this time.
Illumina Laboratory Services, Illumina	RCV000313864	SCV000353336	uncertain significance	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350090	SCV000353337	uncertain significance	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401951	SCV000353338	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310708	SCV000353339	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000829202	SCV000970918	likely benign	not provided	2018-06-13	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.
Invitae	RCV001086973	SCV001014949	likely benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-01-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001525492	SCV001735625	benign	Cardiomyopathy	2021-01-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001525492	SCV003838695	likely benign	Cardiomyopathy	2021-11-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001525492	SCV004826899	benign	Cardiomyopathy	2023-12-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036605	SCV001917013	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000829202	SCV001959381	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000829202	SCV001966085	likely benign	not provided		no assertion criteria provided	clinical testing