ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.41+16A>G

gnomAD frequency: 0.00029  dbSNP: rs370729174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000168958 SCV000111198 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000168958 SCV000970409 likely benign not provided 2018-04-23 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.
Invitae RCV002055113 SCV002383669 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894932 SCV004717315 likely benign TNNT2-related condition 2021-04-17 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).

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