ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.68-8A>G

gnomAD frequency: 0.00864  dbSNP: rs115805892
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Total submissions: 13
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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 RCV000036313 SCV000059965 benign not specified 2011-12-23 criteria provided, single submitter clinical testing
Invitae RCV000463859 SCV000554792 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771839 SCV000904553 benign Cardiomyopathy 2018-03-20 criteria provided, single submitter clinical testing
GeneDx RCV001529209 SCV001939262 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529209 SCV002049810 benign not provided 2021-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445098 SCV004173852 benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445099 SCV004173854 benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445097 SCV004173855 benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952414 SCV004771956 benign TNNT2-related condition 2019-04-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529209 SCV001742286 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036313 SCV001919313 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036313 SCV001957646 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000036313 SCV001968812 benign not specified no assertion criteria provided clinical testing

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