Submissions for variant NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)

gnomAD frequency: 0.08311  dbSNP: rs3729845

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036561	SCV000060216	benign	not specified	2017-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036561	SCV000305593	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243809	SCV000317916	benign	Cardiovascular phenotype	2015-06-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000290215	SCV000353356	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345311	SCV000353357	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404183	SCV000353358	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304487	SCV000353359	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771066	SCV000902578	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV000860466	SCV001000525	benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000036561	SCV001433175	benign	not specified	2019-09-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001675590	SCV001894200	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450667	SCV004177956	likely benign	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450668	SCV004177957	likely benign	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450666	SCV004177958	likely benign	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000036561	SCV001740917	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036561	SCV001920302	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036561	SCV001957394	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036561	SCV001972587	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000404183	SCV003803644	benign	Hypertrophic cardiomyopathy	2022-09-27	no assertion criteria provided	clinical testing