ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.163+12G>T

dbSNP: rs45580032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434547 SCV000531063 likely benign not specified 2016-08-29 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 RCV002522462 SCV003459491 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2022-09-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446025 SCV004173833 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446026 SCV004173834 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446024 SCV004173835 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
Cohesion Phenomics RCV003126729 SCV003803645 benign Hypertrophic cardiomyopathy 2022-09-27 no assertion criteria provided clinical testing

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