Submissions for variant NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)

gnomAD frequency: 0.69444  dbSNP: rs3729547

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036579	SCV000060234	benign	not specified	2008-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000036579	SCV000169023	benign	not specified	2012-09-25	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.
PreventionGenetics, part of Exact Sciences	RCV000036579	SCV000305595	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243565	SCV000317581	benign	Cardiovascular phenotype	2015-06-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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	RCV000266465	SCV000353344	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321667	SCV000353345	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357724	SCV000353346	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262774	SCV000353347	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775977	SCV000910498	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845409	SCV000987475	benign	not provided		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081352	SCV000999947	benign	Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838530	SCV002098607	benign	Dilated cardiomyopathy 1D	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838531	SCV002098608	benign	Cardiomyopathy, familial restrictive, 3	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838529	SCV002098609	benign	Hypertrophic cardiomyopathy 2	2021-09-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000845409	SCV005261116	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000036579	SCV001743163	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036579	SCV001918208	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036579	SCV001929061	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036579	SCV001953204	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036579	SCV001971730	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000775977	SCV003803069	benign	Cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000357724	SCV003803646	benign	Hypertrophic cardiomyopathy	2022-09-27	no assertion criteria provided	clinical testing