ClinVar Miner

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

gnomAD frequency: 0.69444  dbSNP: rs3729547
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Total submissions: 21
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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: 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
Invitae 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
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

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