ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.811-122C>G

gnomAD frequency: 0.22049  dbSNP: rs45509695
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830448 SCV000972183 benign not provided 2018-06-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000830448 SCV001159505 benign not provided 2022-06-30 criteria provided, single submitter clinical testing
Invitae RCV001510731 SCV001717838 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446470 SCV004173729 benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446471 SCV004173730 benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446469 SCV004173732 benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702844 SCV001928771 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702844 SCV001956826 benign not specified no assertion criteria provided clinical testing

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