ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.720-7C>T

gnomAD frequency: 0.00004  dbSNP: rs376303087
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001099023 SCV001255431 uncertain significance Cardiomyopathy, familial restrictive, 3 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001099024 SCV001255432 uncertain significance Hypertrophic cardiomyopathy 2 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV001180298 SCV001345192 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262723 SCV001440696 uncertain significance Dilated cardiomyopathy 1D 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001438925 SCV001641806 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711104 SCV001939268 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001180298 SCV002042854 uncertain significance Cardiomyopathy 2022-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711104 SCV004184001 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TNNT2: BP4
PreventionGenetics, part of Exact Sciences RCV004541101 SCV004773522 likely benign TNNT2-related disorder 2020-08-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV001180298 SCV004822735 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036614 SCV000060269 uncertain significance not specified 2008-03-01 no assertion criteria provided clinical testing

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