ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)

gnomAD frequency: 0.00788  dbSNP: rs35914325
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Total submissions: 19
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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 RCV000036589 SCV000060244 benign not specified 2009-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248438 SCV000317934 benign Cardiovascular phenotype 2016-01-18 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 RCV000365370 SCV000353340 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394877 SCV000353341 likely benign Cardiomyopathy, familial restrictive, 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000307170 SCV000353342 likely benign Hypertrophic cardiomyopathy 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000361172 SCV000353343 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777775 SCV000913746 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512730 SCV001720190 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000204700 SCV001898248 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000204700 SCV003799981 benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450704 SCV004181348 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000394877 SCV004181349 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000307170 SCV004181350 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000777775 SCV004822719 benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000204700 SCV005261111 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000036589 SCV001924756 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036589 SCV001953789 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000036589 SCV001973223 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003125849 SCV003803648 benign Hypertrophic cardiomyopathy 2022-09-27 no assertion criteria provided clinical testing

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